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November 30, 2003

166 Economists

Derek Lowe's excellent Drug Discovery Blog has pointer to an open letter to Congress that is signed by 166 economists. In a nutshell, they point out the danger to society if price controls are imposed on the pharmaceutical industry. Here's the key paragraph:

"We are deeply concerned about proposed legislation to remove pharmaceutical companies' ability to control the importation of their products. The goal of this legislation will be to reduce prices in the American market by imposing other nations' price controls on us. If this attempt succeeds, American consumers would get the short-term windfall of lower prices, but they would end up unnecessarily suffering and living shorter lives -- because promising new therapies would be delayed or not even developed. Even the threat of price controls reduces the incentive to develop new drugs."

You can read the whole letter here on Tech Central Station.

Posted by Dave at 09:10 AM | Comments (0) | TrackBack

November 29, 2003

Failures Of Canadian Health Care

There are those in the United States who would like for us to nationalize the health care system into something similar to Canada's. I'm not one of them. Back when I was one of the blurry-eyed business travellers it seemed that every time I flew into Canada there was local newspaper story devoted to somebody suffering due to health care rationing. Since then I've read several stories about cancer patients waiting weeks or months to begin treatment, the lack of newer medical devices such as MRI's, 40% fewer medications, and the Canadian government paying to send people to the United States for treatment.

Robert Prather of the Insults Unpunished blog points to a piece on Steve Verdon's Deinonychus Antirrhopus blog about the Canadian healthcare system. Steve links to sites relating to the lack of MRI's in the country.

So don't be surprised when I rank Presidential candidates on their health care policies that those advocating a Canadian-like system will be marked down. For those in the Huntington's Disease community we need to make sure our health care system remains on the leading edge of technology. Health care rationing always leads to less spending for "incurable" diseases such as Huntington's.

P.S. In case there is any question, while I don't like Canada's health care system I love visiting the country.

Posted by Dave at 06:22 PM | Comments (0) | TrackBack

November 28, 2003

HDSA Care Spending

I was surprised. Until I broke down the numbers, I didn't realize how much of my donations to HDSA actually went to care-related programs.

Earlier this year I posted a report on HDSA and how it spends its money. Fortunately for the HD community, HDSA proved to be very responsible with its money. However, there are some in the community who have questions on how they split their money between care-related programs and research programs.

Recently, I've had a chance to go over their IRS records for 2002 (last year available) and I can now provide a greater breakdown on how the program money is spent.

Funding for charities comes from grants and donations. Generally speaking, a charity must follow the rules of any grant they receive. They don't have a choice as to where the money is spent. Donations generally come without any significant strings attached.

When you look at total program expenditures (which combines grants and donations) 46% of HDSA's money goes to research and 54% goes to care.

However, when you remove the grant money and only look at how they divy up donations you get a very different picture. HDSA allocates 79.5% of donation's to care-related programs and 20.5% of donations to research programs.

This should make those who prefer care spending very happy! Further, if you add in the grant money that goes to care programs HDSA spends more on care-related programs than they receive in total donations (which is, of course, excluding grants).

For those who like looking at the numbers, here they are:

Program Spending
$1,723,513 Counseling & Referral Services
$ 606,937 Publications, Newsletters
$1,098,288 Chapters (Workshops, Seminars, Symposiums, etc.)
=======
$3,428,738 Total Care-Related Programs ($827,500 from Grants)

$2,912,743 Research Programs ($2,241,668 from grants)
=======
$6,341,481 Total Program Expenditures

Program Revenue By Type
Grants - $3,069,168
Donations - $3,272,313

Donation Expenditure By Category
Research Programs - $671,075 (20.5% of donations)
Care-Related Programs - $2,444,813 (79.5% of donations)

Posted by Dave at 09:54 PM | Comments (0) | TrackBack

November 27, 2003

Giving Thanks

Today is Thanksgiving. This is the traditional day when we give thanks for all we have been given. I'd like to use this occasion to thank the many people who are working on behalf on Huntington's Disease.

THANKS to the researchers who do so much with so little money.
THANKS to the caregivers whose love keeps them going through the hard times.
THANKS to the doctors and nurses who take care of us.
THANKS to the counselors who give us the strength to continue.
THANKS to the friends who care and help knowing we can't do it all.
THANKS to the philanthropists that help finance our many needs.
THANKS to the nursing home staff who do what we can no longer do.
THANKS to the media who let others know about our reality.
THANKS to the politicians who are trying to get us the help we need.
THANKS to the volunteers who do so much with so little recognition.
THANKS to the webmasters who provide the information we need.
THANKS to the support group members who help and care for each other.
THANKS to the social workers who help us find the resources we need.

But most of all...I would like to thank those with Huntington's Disease who teach us so much about perseverance, hope, and courage.

We are a community filled with boundless love and compassion. I thank you all!

Happy Thanksgiving!

Posted by Dave at 10:47 AM | Comments (0) | TrackBack

November 26, 2003

Study On HD & Exercise

Does exercise help protect the brain from Huntington's Disease? One study says it might. Researchers found that exercise, at least in similar animal models, protected neurons. They attributed this protection, at least in part, to increased production of the brain chemical GDNF. This is one more confirmation of the value of excercise for those with Huntington's Disease.

This is the first study to show exercise raising GDNF and in turn protecting neural cells. However, there's been at least eight other studies to indicate that raised GDNF levels can protect the brain from Huntington's damage.

Here's the study:

Exp Neurol. 2003 Nov;184(1):31-9.
Can the brain be protected through exercise? Lessons from an animal model of parkinsonism small star, filled.

Smith AD, Zigmond MJ.

Departments of Neurology and Psychiatry, Pittsburgh Institute for Neurodegenerative Disease, University of Pittsburgh School of Medicine, 15217, Pittsburgh, PA, USA

Evidence suggests that following injury the brain has the capacity for self-repair and that this can be promoted through a variety of experiences including motor activity. In their article, Dobrossy and Dunnett have provided further evidence that this is the case in an animal model in which an excitotoxin is applied to the neostriatum. Under standard conditions, such a toxin would cause considerable damage to the GABAergic cells of this region and produce behavioral deficits. This model has been used to explore certain aspects of Huntington's disease, which also involves the loss of these neurons. However, Dobrossy and Dunnett show that the damage can be reduced by prior motor training. We have been exploring the neuroprotective effects of motor exercise in a different model, one involving 6-hydroxydopamine, which normally destroys dopamine neurons. Our results indicate that forced exercise can reduce the vulnerability of dopamine neurons to 6-hydroxydopamine. The results further suggest that this protection is due in part to an increase in the availability of the trophic factor GDNF, which can in turn stimulate certain signaling cascades, including one that activates ERK. Our results, together with those of Dobrossy and Dunnett and others, raise the possibility that exercise will protect against a variety of neurodegenerative conditions.

PMID: 14637076 [PubMed - in process]

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November 25, 2003

Medicare Hysteria

Well, they passed the bill and it will be signed by the President in the few days.

I'll be the first to tell you that the Medicare bill was not perfect. It's way too expensive and a bit of a kludge. It probably won't do as much as some people believe it will do. Unfortunately, that is how Washington works.

Now several politicians and lobbyists are making catastrophic statements. But are they true? Here's the scoop...

Catastrophy #1 - The bill costs too much and will wreck the budget.

It ain't cheap. The total bill is $400 Billion, though it is spread over 10 years. The reality is that it will end up costing more than that. Even so, while it doesn't help, it won't destroy the government's multi-trillion dollar annual budget.

Unfortunately, in a classic example of the "chicken in every pot" campaign promise...this bill started with giving drug benefits to ALL of the elderly - even the billionaires. In the end the bill starts to phase out the benefit for those making over $80,000/yr. If spending was cut any more, the bill wasn't going to get passed.

What many people don't realize is that the elderly are the wealthiest demographic group in America. Only 5% have problems paying for their medications and many of those qualify for Medicaid coverage. The smartest thing would have been to effectively cover that 5%, but...there aren't enough votes in Congress for that option to have passed. So more only more expensive options had a real chance.

Catastrophy #2 - Some seniors have to pay more for the same benefits!

Frankly, that's a good thing. Why should the poor pay more taxes so that those who have more money don't have to pay for their medications? This isn't a catastropy folks!

Catastrophy #3 - Those with Medicaid drug benefits will have to pay more for their medications.

Generally this won't be true...those below the poverty line will not have to pay for the drug benefit. It is possible that a few with higher incomes may have to pay a little more. The flip side is that with the federal government picking up the drugs costs in these cases this will free up state Medicaid money that will go toward more medical services for the poor. In addition more money is being allocated to hospitals that treat higher levels of Medicaid patients.

Catastrophy #4 - This bill will destroy Medicare.

So you're wondering how can adding $400 billion to Medicare destroy it? Good question. Those who are making those claims are referring to the privatization pilot program. Starting in the year 2010, for just a few years and in only six cities they are going to give seniors the option of purchasing the benefits from private companies instead of the government. Folks...get a grip, that ain't going to spell the end of Medicare.

Catastrophy #5 - It's a giveway to corporate interests.

This is referring to not allowing drug reimportation and some money that is going to the privatization test. There is also some money to encourage businesses to keep drug benefits for retired employees.

If the drug reimportation ban was overturned, this would have meant less money for drug research. This would be very bad for the HD community. The other items are a bit overstated and are offset somewhat by lowering governmental costs. It could have been done better, but it's not as bad as it has been made out to be.

Catastrophy #6 - Cancer patients will suffer.

This suprises many people as this issue really didn't really make headlines during the debate on this bill. What they are referring to is a change in how doctors were reimbursed for spending on cancer drugs. The previous formula was terrible with the government often paying much more than market price for the medications. The new formula will more closely match market prices. This will cut into the revenue of some cancer clinics. Overall, this is a good change.

That's the main scare stories out there now... We'll know in a few years how many will come true. I doubt many will.

Posted by Dave at 09:48 PM | Comments (0) | TrackBack

Huntington's & Children

A new study found that 3/4th of Briton's would not have children if they knew they carried a genetic disorder such as Huntington's Disease.

This isn't surprising.

I just finished talking with a friend who, as she puts it, got "fixed" because of HD in her family. Since then, she's found out that she also has the disease and while she's glad she made that decision...it still hurts her to know she won't have a family of her own.

Just one of the many 'hurts' that pHD'ers (persons with Huntington's Disease) carry around...and tell almost nobody.

Posted by Dave at 08:52 PM | Comments (2) | TrackBack

November 24, 2003

Yoga For Huntington's

Here's a great article on the using Yoga to slow the progression of Huntington's Disease. Laura Jean, who helped found the Connecticut Chapter of HDSA and was instrumental in getting a Huntington's Disease program at the University of Connecticut, was diagnosed with HD in 1999. She took up Kundalini Yoga and in two short years she's gone from not being able to go grocery shopping to opening her own yoga business (appropriately called DNA Yoga and Meditation) and leads yoga classes six days a week. She's not 'cured' but she appears symptom-free to those who see her.

Definitely an article worth reading. Her comment on HD: “I feel like I have a handle on it now. I have HD, but it no longer has me.”

Posted by Dave at 09:23 PM | Comments (0) | TrackBack

November 23, 2003

The Battle In The House

David Broder has fascinating article (at least for political junkies) in the Washington Post. The record breaking three-hour vote that eventually led to the passage of the Medicare Bill likely also set a record for arm-twisting and cajoling. Check it out.

Posted by Dave at 08:19 AM | Comments (0) | TrackBack

Risk to Family Members

Parents of a proband. Most individuals diagnosed as having HD have an affected parent, although occasionally the family history is negative. Family history may be "negative" because of alternate paternity, adoption, early death of a parent, failure to recognize symptoms of HD in family members, late onset in a parent, the presence of an intermediate allele (range 27 to 35 CAG repeats) in a parent or a reduced penetrance allele (range 36 to 41 CAG repeats) in an asymptomatic parent, or a new mutation for HD. New mutations causing HD are rare [Harper 1991].

An intermediate allele has not been shown to expand into the disease range when transmitted by the mother; the risk of expansion into the disease range is about 2.5% when transmitted by the father [Goldberg et al 1995]. Intermediate alleles occur in up to 1% of individuals in some populations [Leeflang et al 1995 , Goldberg et al 1995]. It is appropriate to offer molecular genetic testing of a symptomatic parent or both parents if they are asymptomatic.

Sibs of a proband. The risk to the sibs of a proband depends on the genetic status of the proband's parent. If a parent is affected or carries a CAG expansion in the HD gene, the risk is 50%. It is important to note that it is appropriate to offer genetic testing to asymptomatic at-risk adult relatives for genetic counseling purposes.

Offspring of a proband. Offspring of a proband have a 50% chance of inheriting the disease-causing mutation at conception. The probability that an asymptomatic at-risk person (who has not undergone molecular genetic testing) has a disease-causing mutation remains 50% during childhood and young adulthood, but gradually decreases with increasing age (Table 2).

Other family members. The risk to other family members depends on the genetic status of the proband's parents. If a parent is found to be affected or to carry a disease-causing mutation, his or her family members are at risk.

Copyright© 1993-2003, All Rights Reserved
www.genetests.org
Children's Health System and University of Washington, Seattle

Posted by Dave at 08:17 AM | Comments (0) | TrackBack

HD Prevalence By Population

The prevalence is between 3 and 7 per 100,000 in populations of western European descent. HD appears less common in Japan, China, Finland, and African blacks [Hayden et al 1980]. The frequency of HD in Japan has been estimated at between 0.1 and 0.38 per 100,000. The prevalence of HD exceeds 15 per 100,000 in some populations that are mostly of western European origin [Hayden et al 1981 , Folstein 1989 , Harper 1996].

The uneven distribution of HD is at least partially explained by the distribution of predisposing alleles and haplotypes in the normal population of these ethnic groups [Kremer et al 1994 , Squitieri et al 1994 , Almqvist et al 1995 , Watkins et al 1995]. The most common alleles in all populations contain 15 to 20 CAG repeats; in western European populations, the distribution is skewed towards longer alleles within the normal range, whereas these longer alleles are less common in African and Asian populations [Squitieri et al 1994 , Watkins et al 1995 , Rubinsztein et al 1996]. This suggests that the expanded alleles in the disease range arise from long normal alleles, which are more prevalent in western European populations.
Copyright© 1993-2003, All Rights Reserved
www.genetests.org
Children's Health System and University of Washington, Seattle

Posted by Dave at 08:05 AM | Comments (0) | TrackBack

Prenatal Testing

For fetuses at 50% risk. Prenatal testing for HD is possible for fetuses at 50% risk using the same DNA-based techniques described in Molecular Genetic Testing . DNA can be extracted from fetal cells obtained by amniocentesis at 16-18 weeks' gestation* or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. Requests for prenatal diagnosis of (typically) adult-onset diseases are difficult situations requiring careful genetic counseling. The continuation of pregnancies in which test results are positive becomes a significant issue because issues related to testing of at-risk asymptomatic children pertain.

For fetuses at 25% risk. Linkage analysis can be used in prenatal diagnosis for fetuses at 25% risk in "exclusion testing" in such a way that the genetic status of the at-risk parents is not revealed [Tyler et al 1990].

* Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements. Copyright© 1993-2003, All Rights Reserved
www.genetests.org
Children's Health System and University of Washington, Seattle

Posted by Dave at 08:04 AM | Comments (0) | TrackBack

Molecular Genetics Of HD

Normal allelic variants: The HD gene is located on chromosome 4p16, encompasses 67 exons, and spans over 200 kb [Ambrose et al 1994]. It is ubiquitously expressed as two transcripts, 10.3 kb and 13.6 kb in length, that differ in the size of the 3' UTR [Lin et al 1993 , Lin et al 1995]. The gene contains a trinucleotide repeat (CAG) that is expanded within the HD gene on at least one chromosome of patients with HD. The CAG repeat length is highly polymorphic in the population and the normal repeat size ranges from 10 to 35 (median 18) [Andrew et al 1993 , Kremer et al 1994 , Andrew et al 1997]. The most common alleles in all populations contain repeats of 15 to 20 CAG in length.

Pathologic allelic variants: The mutation underlying HD is an expansion of a CAG/polyglutamine tract in the first exon [HDCRG 1993]. The CAG repeat length in patients with HD ranges from 36 to 121 (median 40). Adult-onset patients usually have an expansion from 40 to 55, whereas juvenile-onset patients have expansions above 50 that are often inherited from the father. A well-established inverse correlation between CAG repeat length and age of onset exists [Brinkman et al 1997]. However, penetrance in the repeat range of 36 - 41 is reduced.

Normal gene product: Huntingtin. The HD gene lacks homology to any previously characterized gene and encodes a protein (huntingtin) of 3144 amino acids with a predicted molecular mass of 348 kDa. Huntingtin is widely expressed with no obvious differences in the regional distribution of the mutant and wild type protein. The polyglutamine tract starts at residue 18 and is followed by a polyproline region. The region downstream of the polyglutamine tract contains a HEAT repeat, a motif that consists of 40 loosely conserved amino acids repeated multiple times in tandem, which is proposed to be involved in protein-protein interactions [Andrade & Bork 1995].

Abnormal gene product: The CAG in the HD gene is translated into an uninterrupted stretch of glutamine residues which when expanded may have altered structural and biochemical properties. Several models to explain the pathogenesis of CAG expansion diseases have focused on the structural and biochemical properties of long glutamine tracts. Polyglutamine stretches are potential substrates for transglutaminases which may crosslink glutamines in the tract with lysine residues in other proteins, leading to the formation of protease resistant glutamyl-lysyl cross-links and isopeptides [Green 1993]. However, such cross-linked isopeptides have not been demonstrated in neurons that degenerate in HD. Polyglutamine stretches tend to form polar zippers and aggregate together via hydrogen bonding [Perutz et al 1994 , Perutz 1994 , Stott et al 1995]. Protein-protein interactions mediated by polyglutamine tracts might simply result in insoluble and toxic precipitates, analogous to the aggregates such as amyloid deposits implicated in the pathogenesis of other neurodegenerative diseases. Proteolytic cleavage of a GST-huntingtin fusion amyloid-like protein results in protein aggregates when the polyglutamine expansion is in the pathogenic range [Scherzinger et al 1997]. Similar aggregates have been found in HD brains, the brains of mice transgenic for exon 1 of the human HD gene carrying 115 to 156 CAG repeat expansions [Scherzinger et al 1997 , DiFiglia et al 1997], and in cultured cells transfected with HD expression constructs [Martindale et al 1998 , Cooper et al 1998 , Hackam et al 1998].

Interacting Proteins
A number of interacting proteins, including HAP-1 and HIP1, in which interaction is altered when the polyglutamine repeat is expanded, have been identified. Their role in selective neuronal loss in HD has not yet been determined. Huntingtin has recently been demonstrated to be a substrate for caspase-3, whose action results in the formation of a smaller product. There is accumulating evidence that aminoterminal fragments of huntingtin containing expanded polyglutamine tracts may be toxic to cells [Martindale et al 1998 , Hackam et al 1998].

Copyright© 1993-2003, All Rights Reserved
www.genetests.org
Children's Health System and University of Washington, Seattle

Posted by Dave at 07:59 AM | Comments (0) | TrackBack

Testing Of Asymptomatic At-Risk Children

Requests from parents for testing of asymptomatic at-risk children require sensitive and understanding counseling. An international consensus exists that asymptomatic children should not have testing. The principal arguments against such testing in children are that it removes their choice, it raises the possibility of stigmatization within the family and in other social settings, and it could have serious educational and career implications [Bloch & Hayden 1990 , Harper & Clarke 1990].

Anticipation. One issue to consider in testing of asymptomatic at-risk individuals is anticipation, the phenomenon in which there is increasing disease severity or decreasing age of onset in successive generations. Anticipation occurs more commonly in paternal transmission of the mutated allele [Ridley et al 1988 , Ridley et al 1991]. The phenomenon of anticipation arises from instability of the CAG repeat during spermatogenesis [Duyao et al 1993 , Telenius et al 1995]. Large expansions in CAG repeat size [>7 CAG repeats] occur almost exclusively through paternal transmission. Most often children with juvenile-onset disease have inherited the expanded allele from their fathers.

DNA banking. DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methods and our understanding of genes, mutations, and diseases will improve in the future, consideration should be given to banking DNA particularly when interpretation of results is difficult. For example, if an affected family member is not available or chooses not to be tested, interpretation of a "negative" result in at risk family members is difficult. An affected family member who chooses not to be tested may be willing to have DNA banked for future use by other family members. See DNA Banking for a list of laboratories offering this service.

Posted by Dave at 07:54 AM | Comments (0) | TrackBack

Testing Of Asymptomatic At-Risk Adults

Testing of asymptomatic at-risk adults for HD has been available for over ten years. It should be remembered that routine testing for an HD mutation in the presence of non-specific or equivocal symptoms is predictive testing, not diagnostic testing. When testing at-risk individuals for HD, it is helpful to test for the CAG expansion in the HD gene in an affected family member to confirm that the disorder in the family is actually HD. Predictive testing protocols usually involve pre-test interviews in which the reasons for requesting the test, the individual's knowledge of HD, the possible impact of positive and negative test results, and neurological and psychological functioning are assessed. Post-test follow-ups are also performed.

Short term follow-up of the participants in the Canadian Predictive Testing Program have revealed that predictive testing for HD may maintain or even improve the psychological well being of at-risk individuals [Wiggins et al 1992 , Bloch et al 1992] even though some had negative experiences [Morris et al 1989 , Wexler 1992 , Lawson et al 1996]. Surprisingly, about 10% of the group with decreased risk had serious difficulties adapting to their new status. The major hurdle for these individuals is the realization that they are facing an unplanned future. Overall the demand for testing of at-risk asymptomatic adults has been lower than expected in studies conducted before the availability of direct DNA testing [Craufurd et al 1989].

Data concerning the likelihood that an individual with a particular size CAG repeat will be affected by a specific age may be useful in predictive testing programs [Brinkman et al 1997]. (See also the National Society of Genetic Counselors resolution on genetic testing of children and the American Society of Human Genetics and American College of Medical Genetics points to consider : ethical, legal, and psychosocial implications of genetic testing in children and adolescents.)

Copyright© 1993-2003, All Rights Reserved
www.genetests.org
Children's Health System and University of Washington, Seattle

Posted by Dave at 07:46 AM | Comments (0) | TrackBack

Risk Of Positive Test By Age

Risk to test positive for an HD mutation in at-risk adults

Probability that a person with an apriori 50% Risk for HD will test
positive for an HD mutation if He/She remains asymptomatic at a given age

Age (Years)	Probability of an HD Mutation (%)
20 yrs	49.6%
22.5 yrs	49.3%
25 yrs	49%
27.5 yrs	48.4%
30 yrs	47.6%
32.5 yrs	46.6%
35 yrs	45.5%
37.5 yrs	44.2%
40 yrs	42.5%
42.5 yrs	40.3%
45 yrs	37.8%
47.5 yrs	34.8%
50 yrs	31.5%
52.5 yrs	27.8%
55 yrs	24.8%
57.5 yrs	22.1%
60 yrs	22.1%
62.5 yrs	18.7%
65 yrs	12.8%
67.5 yrs	10.8%
70 yrs	6.2%
72.5 yrs	4.6%

From Harper & Newcombe 1992

Copyright© 1993-2003, All Rights Reserved
www.genetests.org
Children's Health System and University of Washington, Seattle

Posted by Dave at 07:17 AM | Comments (0) | TrackBack

November 22, 2003

Medicare Bill Passes House

At 3am Saturday morning the House started a roll call that lead to the narrow 220-215 passage of the $400 billion Medicare bill. This was the longest roll call vote in history.

Both sides pulled out all the stops before this early morning vote with the debate becoming very heated. Phrases such as "waged war on Medicare", "huge giveaway", "stole it by hook and crook", and "Medicare is going bankrupt!" Last minute arm-twisting eventually gave the bill the needed votes to pass.

The Senate is going to try to bring this to a vote within the next couple of days. It's still unclear whether the Senate Democrats will filibuster the bill. I suspect they will attempt to delay the vote but not deliver a full filibuster. With far more Democrat Senate seats up for re-election than Republican seats, the Democrats aren't going to give their opponents the ability to charge they voted against a prescription benefit for the elderly and disabled.

But then they've bungled the public relations war so far on this bill, so anything is possible.

Posted by Dave at 07:56 AM | Comments (0) | TrackBack

November 21, 2003

Experiences With Huntington's Disease

If you haven't been there, CureHD.org has a collection of stories written by and about those who've been affected by Huntington's Disease. This is a great link to give to friends who don't quite understand HD.

HDAC.org has a great collection of personal stories on this page. As you read through them you'll find a wide variety of opinions regarding Huntington's Disease. Agree or disagree, you certainly see a cross-section of the HD community.

Posted by Dave at 06:15 PM | Comments (1) | TrackBack

November 20, 2003

Medicare Vote Tomorrow

It looks like the House will vote on the Medicare bill on Friday. It's still a close call, but I expect that it will pass by a close margin. Should it pass the House, the Senate will follow with their vote where it should pass comfortably.

Posted by Dave at 10:10 PM | Comments (0) | TrackBack

November 19, 2003

A Huntington's Disease Story

The fine folks at the Generations of Hope Ranch Camp have posted a fascinating story of Huntington's disease that is all to familiar to them. The story will sound familiar to many others.

Read the story here and you'll understand why they are so passionate about assisting other families dealing with Huntington's Disease. Visit the bottom of this page to learn how you can help them help others.

Posted by Dave at 07:50 PM | Comments (0) | TrackBack

November 18, 2003

Fanfare For Woody Guthrie

Great article on the Woody Guthrie Foundation & Archives in the Star-Ledger. Very little on the his battle with Huntington's Disease but more details about the rest of his life. A few tidbits from the article:

"As the world learns more about the endlessly fascinating Woody Guthrie, Nora gets closer to her father.

When she was growing up, he was suffering from the disease that would eventually kill him -- Huntington's chorea, a degenerative disorder of the nervous system -- and could not communicate very well. He spent most of her youth in hospitals, including Greystone Park Psychiatric Hospital in Morris County, where he stayed from 1956 to 1961.

But when she explores the archives, she says, "I'm going back in time and going, 'Oh, that's how you felt that day.' 'That's how you felt about having a fatal disease.' 'That's how you felt about God.'

"This has been, a little bit, my turning the tables on life. Most people have a great time with their parents in the first half of their life, then in the second half they might have to take care of them, since they get ill. We did all of our caretaking in the beginning, and now we have this really spirited guy in (the archives). And he's directing traffic, I'll tell you! Everyone says, 'OK, what does Woody want now?' "

Posted by Dave at 07:16 PM | Comments (0) | TrackBack

Medicare Filibuster?

There are news reports out today indicating that the final Medicare bill will not pass the House and Senate. One reason given is a potential filibuster being discussed by Senate Democrats. Don't believe it. A belief within the Democratic party is that the Republicans will gain support with the passage of this bill. However if Democrats filibuster, the Republicans will then be able to blame the Democrats for not passing the Bill which will only help them in upcoming Senatorial elections next fall. The Democrats won't fall into that trap and the bill should pass the Senate.

On the House side, the vote is a little more questionable. The vote is very tight and a number of Republicans are leaning against voting for the bill. If the bill fails with several Republicans voting against it, the bill will fail without much of a perceived blemish on the Democrats. AARP is starting their multi-million dollar compaign tomorrow to urge approval of this bill. This money may very well be the thing that gets this bill passed in the House.

Look closely and you'll see a game of political 'chicken' being played out in the house as several House members from both parties try to guess whether they are better off politically by voting for or against the bill.

Let the games begin.

Posted by Dave at 07:05 PM | Comments (0) | TrackBack

November 17, 2003

Medicare Bill - Mostly Good

The details of the Medicare bill are becoming clearer. All-in-all, this bill is better than I thought it would be. AARP, the most powerful lobby in this fight is backing this bill.

Those who oppose the bill include: A couple of unions who say it will cause some older employees to lose company benefits, some prominent Democrats who say that the proposed private competion test will lead to the destruction of Medicare, and a few Republican's who fear that this will have higher costs than advertised.

Here's the highlights:

For the next two years seniors get a 15% discount on their prescriptions with the poorest getting subsidies. In 2006 seniors can join a plan that will greatly reduce their costs. Comment: Senior's will come out way ahead on this, especially those on limited incomes.

A limited six-market, six-year demonstration to see if private competition can help keep Medicare costs down. This won't start for a few years. Comment: This doesn't start for several years and limited scope of this test may end up limiting the chance to show any cost savings. Those who claim this will cause the downfall of Medicare should adjust their medication. If it does work, it could end up saving billions of dollars.

Hospitals that serve a large number Medicaid patients will get higher payments. Comment: They threw a bone to Medicaid. Low payments to hospitals has limited access for Medicaid patients.

A cost-containment clause that forces Congress to address the problem if premiums cover less than 55% of the costs. Comment: Some are arguing that this will cause severe cuts in benefits or increased costs down the road. Based on forecasts, someday the government probably will have to make adjustments to keep the system solvent as costs escalate. This will happen with or without this clause, but it will give the politicians some political cover. This is 10-30 years away, but expect first cuts to be (appropriately) to the wealthy.

Wealthy seniors (over $80,000 in income) will have to pay more of the cost of premiums. Comment: This is better than the original plan to give ALL seniors the same benefits but it makes no sense to subsidize any senior who can easily pay for their medications. This leaves less money for those who need it most. But then this was about votes, not needs.

Allows all American's to setup tax-sheltered health savings accounts. Comment: There will be some who claim this will benefit the rich but the big benefit will be to the working poor who have few opportunities to shelter their income. Early evidence on these health savings accounts is that they are very-cost effective (from the government's point of view), they give individuals more flexibility in their health care, and they can help keep premiums down.

Payments to doctors (already too low) will not be cut 4.5% next year as originally planned. They'll get a 1.5% boost. Comment: This is a good thing. Doctor's payments have gotten so low that many offices are limiting or refusing to serve Medicare patients. This has lowered the standard of care.

Rural hospitals get additional financial help. Comment: This is a little bit of bribery to rural politicians such as Max Baucus (who was on the conference committee) but it should improve the quality of care in those communities.

Drug reimportation will, in effect, still be illegal. Comment: The alternative would have, in effect, reduced the amount of money spent on research. Since the Huntington's Disease community has no effective treatment options, we need as much research dollars as possible in order to save lives.

Pharmaceutical companies will no longer be able to issue claims to get sequential 30-month extensions on their patents. Now they only get one extension Comment: This is very good and long overdue. The pharmaceutical companies, by the time their patents expire, almost always have already recovered all their development costs and earned a good profit. This fixes an area that was being abused.

Not a perfect bill, but better than expected. The full conference committee will have to approve it and then it has to be approved in an up-or-down vote by the House and Senate. If it makes it to the President's desk, it will be signed. This isn't a sure thing, but it's looking good.

Posted by Dave at 07:50 PM | Comments (0) | TrackBack

November 16, 2003

Tentative Medicare Agreement

As they say "the devil is in the details". We'll have to see over the next few weeks exactly what the details are. Before going over some of the reported details, here is some of the background...

While there are many in Congress who believe a prescription benefit is needed for seniors, the debate has been driven largely by politics. The move to add benefits to Medicare started in the late 1990's, in preparation for the 2000 elections and electoral college mathmatics. Just a few states control a large percentage of the electoral college votes and in almost every state the winner gets all of that state's votes. California and New York were believed to be solid for the Democratic candidate and Texas was considered to be solid for the Republican candidate. Other larger states were in varying degrees of "play" but Florida was considered, from very early on, to be the key state. In order for a party to win, it was believed that they would have to win Florida.

The vote in Florida was expected to be close. The Republican's were heavily favored by the growing Cuban-American community and the state's growing elderly population leaned heavily toward the Democrats. Expanding Medicare benefits was considered a prime way to court enough votes to swing the state one way or the other. By the time of the hotly debated election, legislation had not been passed and neither party did a very effective job of blaming the other side for the failure to pass a bill. Of course, nobody could have predicted what eventually happend in Florida.

Fast forward to today. As the population ages and with the two parties being so close to each other in voter support, the elderly are considered one of the most important voting blocks. So for the past year the two parties have been jockying for who would get the most credit should the bill pass and who would get the most blame should the bill fail. Complicating the situation is the growing elderly population and the fast-growing costs of Medicare and Social Security. Current estimates have Medicare and Social Security taking up 80% of the federal budget by 2030. Expanding benefits would increase these costs but, at the moment, there is very little voter concern.

With both parties supporting the prescription benefit, the distinction between the two became the scope of the prescription benefit. The Democrats supporting full prescription coverage for all seniors and the Republicans backing prescription benefits for only those with lower incomes, not the wealthy. (The elderly are the wealthiest demographic in the country.)

The Medicare bills that passed the House and Senate had some important differences that had to be ironed out in the conference committee. This is where this bill has stalled for past several weeks. At an impass, the Republicans on the committee took the unusual step of meeting without the Democrats to create a proposal that would meet with the approval of the two key Democrats on the committee - the very-liberal Max Baucus and the very-conservative John Breaux. It worked and now there is a tentative agreement, though broad support is still in doubt with Ted Kennedy and Tom Dascle now arguing that it is a very bad bill for seniors.

Here's the reported details:

All seniors get a 15% discount on prescriptions. In an attempt to provide some competition to keep costs down private insurance companies can provide some of the services now only provided by the government. More money will be routed to rural areas. The reimportation of drugs will still be banned. Employers will be subsidized to minimize the number of seniors who lose their private insurance.

Perhaps the most important portion of the bill for the Huntington's Disease community is a new tax break for those with high-deductible insurance policies (not limited to the elderly).

At the moment, this bill sounds like a positive for HD community. The tax break will save individuals hundreds of dollars a year and this isn't likely to reduce the amount of money that pharmaceutical companies will spend on badly-needed new drug research. For those HD families who rely on Medicare, they should also come out ahead.

Of course, that is based on what is being reported. Expect this bill to get full approval and to be signed by the President. Until then, you'll see a lot of jockying in the media as each party seeks to maximize their position while demonizing the other side. This is just the beginning to what is going to be an ugly election year.

Posted by Dave at 09:40 AM | Comments (0) | TrackBack

Amaryllis Campaign

The Montreal Gazette has a nice article on Mary Rivard-David and the Amaryllis Campaign that she started in Canada to raise money for Huntington's Disease support services. Over the years she's sold over $100,000cn of the plants. An excerpt:

But her support, and sense of good fortune, have never wavered. "Huntington's has been an extraordinary launching pad for me," she said. "It has propelled me to do the finest things I've ever done."

You can find the article here.

Posted by Dave at 08:20 AM | Comments (0) | TrackBack

November 15, 2003

Caveat Emptor or Buyer Beware

I was wrong.

What I wrote on the HD Blog was incorrect. The only problem is…

I don’t know what it is I wrote that is incorrect. Confused? Don’t be. This is just a friendly reminder to not trust everything you read here (or elsewhere) on Huntington’s Disease to always be accurate. I’m a layman who is offering my thoughts on HD here on a daily basis. I’ve spent many years in college and I’ve got multiple degrees but…none are in HD related fields such as genetics, biology, chemistry, etc. … I am not a medical professional nor do I play one on TV!

That does not necessarily mean I’m wrong on a particular point any more than it would mean that a person with an ‘appropriate’ college degree is always correct. Just take a look through a few study abstracts and you’ll find that two highly educated and professional research groups can come to opposite conclusions on a particular point. One or both are wrong; we just don’t know who it is.

Fortunately, we have a number of laypeople and professionals in the Huntington’s Disease community who provide information and opinions. Read as many of them as you can and don’t just rely on any one source for your information, including this website. We don’t all agree on everything!

I recently had a very pleasant email exchange with a college professor who gently took issue with a statement that I had made regarding environmental factors affecting the age of onset in Huntington’s Disease. Simply put, he believes that there is less evidence of this than I do. It may very well be that he is right on this and I am wrong. He certainly has more experience and training in this area than I do. I haven’t changed my mind (stubbornness?) but I will certain weigh his opinion when I read and write on related matters.

One area where there is disagreement is the nutritional supplement coQ10. Currently, I believe that in adequate doses (600mg/ed or higher) it appears to offer a ‘mild’ benefit to those with Huntington’s Disease. I can cite a few peer-reviewed studies that support my opinion. Another person, with more years of involvement with HD than me, believes that coQ10 offers no benefit and may in fact be harmful to those with Huntington’s. They can also point to real studies that support their opinion. One or both of us is wrong but if you read what both of us have written and consult with your doctor you can make a more informed decision on whether this supplement is right for you.

Speaking of doctors…don’t expect them to be always right either. Yes, they have the years of training and experience but they are human also. Even a specialist such as a neurologist has to keep up with research (some of it contradictory) for dozens of neurological (and other) diseases. It isn’t humanly possibly to be up to date on all the latest research for all the neurological diseases and have lots of real world experience in each of them.

Also, a neurologist is not a psychiatrist or a geneticist. They have some knowledge in these areas but there are others with more knowledge and experience. Finally, some doctors have better work ethics and people skills than others. Some just shouldn’t be doctors who see patients. Remember to trust your instincts and don’t be afraid to get referrals and second opinions. Ultimately, you are the ‘case manager’; the one who is ultimately responsible for your own health care and that of your family.

Be careful of those with their own “axes to grind” and ulterior motives. I’ve seen people make deliberately false statements about HD organizations and others in the community. The motives for this vary, but the effects are equally destructive.

I even know of one person who went on disability for Huntington’s Disease who was almost certainly asymptomatic at the time (and still is). This person now states that their surprisingly good state of health years later is due to a ‘miracle’ treatment gotten outside of normal medical circles. There is no one else in the entire world with Huntington’s Disease that has shown any similar benefit from this so-called treatment. (Of course it is possible to conceive of circumstances that would not involve of any intentional falsehood.)

So, in conclusion…

There are almost certainly errors on this website (and maybe even in this post). Since the first day of this blog, I’ve enabled comments so that you can post a correction or clarification should you find a problem. As a result I’ve had several readers through emails and comments point out errors and concerns and I give a special thanks to all of you who have done so.

Posted by Dave at 10:49 AM | Comments (0) | TrackBack

November 14, 2003

Michael J. Fox & NIH

Without actually wishing Huntington's Disease on anyone, I've heard many people wish there was a celebrity who would bring attention to the disease. Parkinson's has Michael J. Fox and Muhammad Ali. Alzheimer's got more visibility with Ronald Reagan and there are several others.

Huntington's is the "hidden disease" and while the notable Woodie Guthrie died from it, most people today are only faintly aware of Woodie Guthrie and fewer know what he died from. This lack of visibility severely hurts our fundraising.

Well, one celebrity is doing something that will help HD and it is Michael J. Fox. His foundation, along with the National Institute of Neurological Disorders and Stroke (NINDS) is working to test about 40 different drugs to see if they will help protect the brain against disease. In addition to Parkinson's and ALS, they will also be testing these drugs against Huntington's Disease! Millions of dollars will be going into this research. Thanks Michael! Here's the press release:

The Michael J. Fox Foundation and NIH Collaborate To Fund Drug Screening Consortia
Friday November 14, 12:50 pm ET

NEW YORK, Nov. 14 -- The Michael J. Fox Foundation for Parkinson's Research (MJFF) and the National Institute of Neurological Disorders and Stroke (NINDS) have joined efforts to create a consortium for testing candidate drugs with potential neuroprotective benefits. The drugs will be tested on a variety of rodent models spanning several neurodegenerative diseases such as Parkinson's disease, ALS, and Huntington's disease.
NINDS initiated the program with a $1 million dollar commitment to create a consortium to identify new treatments for neurodegenerative disorders through the testing of promising drugs identified or evaluated in ongoing peer-reviewed projects. Seeing an opportunity to increase focus on Parkinson's disease as well as open the applicant pool to non-NINDS grantees, MJFF joined the NINDS effort. Approximately 40 candidate neuroprotective drugs will be tested in the consortium through 15 NINDS-funded supplement grants and five MJFF-funded awards. In all, MJFF pledged $263,000 to this program, and more than doubled the number of drugs tested in PD models, for a total of approximately 17 drugs.

"We are extremely pleased that the Foundation was able to give added value to the drug screening program by widening the possible candidate pool and increasing program focus on Parkinson's disease," said Debi Brooks, MJFF executive director. "One of our strategies is to find existing opportunities where we can leverage research dollars. NINDS had the program in place and together we recognized a chance for the Foundation to increase focus on Parkinson's."

While MJFF's participation in the program has brought increased focus on Parkinson's disease, the program as a whole takes a much broader look at neurodegenerative diseases by calling for collaboration among scientists and creating a new forum for information sharing. In total, five neurodegenerative diseases will be represented in the program.

"Because this program is under the umbrella of neuroprotection rather than specifically PD, we are pulling together scientists from more distant fields who do not always work closely together," said Jill Heemskerk, program director for technology development at NINDS. "This facilitates information sharing and helps move promising drugs from one disease area to another, thus benefiting all groups."

The Michael J. Fox Foundation for Parkinson's Research is pleased to award grants to the following researchers:

M. Flint Beal, MD
Weill Medical College of Cornell University
New York, NY
Project Title: "Testing of Candidate Drug Treatments for Parkinson's
Disease in Rodent Models"

Jay Schneider, PhD
Thomas Jefferson University
Philadelphia, PA
Project Title: "Potential Neuroprotective/Neurorestorative Agents for
Parkinson's Disease"

Moussa Youdim, PhD
Technion R&D Foundation - Israel Institute of Technology
Haifa, Israel
Project Title: "Ironing Iron Out in Parkinsonian Rodents Models with
Brain Permeable Iron Chelators"

Gail, D Zeevalk, PhD
UMDNJ-Robert Wood Johnson Medical School
Piscataway, NJ
Project Title: "The Ethyl Ester of Glutathione as a Neuroprotectant
Versus Chronic Rotenone"

Thomas M. Jeitner, PhD and Gloria Meredith
Medical College of Wisconsin Finch University of Health Sciences
Milwaukee, WI North Chicago, IL
Project Title: "Cystamine: A Therapeutic Drug for Parkinson's Disease"

The drug-screening program is one element of the Foundation's aggressive research agenda aimed at finding a cure for Parkinson's disease. To date, The Michael J. Fox Foundation for Parkinson's Research has funded nearly $30 million in research, either directly or through partnerships. MJFF anticipates funding approximately $20 million more by early 2004. For more information on The Michael J. Fox Foundation for Parkinson's Research, visit www.michaeljfox.org.

Posted by Dave at 11:34 PM | Comments (0) | TrackBack

November 13, 2003

Doctor's Resource Update

Jerry, the driving force behind HD Lighthouse has put thousands of hours into helping those with Huntington's Disease maintain their heath. It would hard to understate his importance to the HD community.

He's launched a new website, mentioned here yesterday, to inform doctors on treatment options for Huntington's Disease. The focus isn't on medicating symptoms, but on proactive treatment. Perhaps the only HD-related website with that focus.

It'll be interesting to follow as the website expands over time.

Posted by Dave at 08:16 PM | Comments (0) | TrackBack

November 12, 2003

HD Resource For Doctors

Not much time tonight but visit http://huntington-disease-treatment-now.org/. (Via HD Lighthouse)

I'll post more on this later.

Posted by Dave at 10:11 PM | Comments (0) | TrackBack

November 11, 2003

NYT Falls For 'Unpatentable' Myth

Instapundit points to a great article written by Derek Lowe on his outstanding Drug Discovery blog. The article 'fisks' (refutes) a New York Times Editorial that perpetuates myths that pharmaceutical companies can't make money from naturally occuring chemicals. In this case he's referring to the so-called 'synthetic HDL' which showed in one study the ability to reduce clogging of the arteries.

This myth keeps getting pushed by con-artists and snake-oil salesmen pitching scams such as "Live Shark Cell Therapy". It is also pushed by various organizations that have a beef with pharmaceutical companies. I highly recommend you read Derek's article. Here are some exerpts:

"How, by your reasoning, did Eli Lilly ever realize any profit from insulin? It's just another "normal body protein" whose medical use was already known, after all. How did Genentech ever make any money from human growth hormone?"

"Patents are issued for many kinds of inventions. Chemical matter (such as the protein itself) is patentable, as are new or improved methods of producing such materials, as well as new uses for them. A good method for economical large-scale production of Apo-A1 would be a very lucrative patent indeed."

He finishes with:

"Well, speaking as a member of the vaunted American research establishment, I find it irritating to be harangued by the New York Times about a subject you've clearly made little attempt to understand. Spend an hour reading the medical literature before you load up the cannons again - it'll be worth it, trust me."

Posted by Dave at 09:57 PM | Comments (0) | TrackBack

Neuron Fact Sheet

Introduction
Until recently, most neuroscientists thought we were born with all the neurons we were ever going to have. As children we might produce some new neurons to help build the pathways - called neural circuits - that act as information highways between different areas of the brain. But scientists believed that once a neural circuit was in place, adding any new neurons would disrupt the flow of information and disable the brain’s communication system.

In 1962, scientist Joseph Altman challenged this belief when he saw evidence of neurogenesis (the birth of neurons) in a region of the adult rat brain called the hippocampus. He later reported that newborn neurons migrated from their birthplace in the hippocampus to other parts of the brain. In 1979, another scientist, Michael Kaplan, confirmed Altman’s findings in the rat brain, and in 1983 he found neural precursor cells in the forebrain of an adult monkey.

These discoveries about neurogenesis in the adult brain were surprising to other researchers who didn’t think they could be true in humans. But in the early 1980s, a scientist trying to understand how birds learn to sing suggested that neuroscientists look again at neurogenesis in the adult brain and begin to see how it might make sense. In a series of experiments, Fernando Nottebohm and his research team showed that the numbers of neurons in the forebrains of male canaries dramatically increased during the mating season. This was the same time in which the birds had to learn new songs to attract females.

Why did these bird brains add neurons at such a critical time in learning? Nottebohm believed it was because fresh neurons helped store new song patterns within the neural circuits of the forebrain, the area of the brain that controls complex behaviors. These new neurons made learning possible. If birds made new neurons to help them remember and learn, Nottebohm thought the brains of mammals might too.

Other scientists believed these findings could not apply to mammals, but Elizabeth Gould later found evidence of newborn neurons in a distinct area of the brain in monkeys, and Fred Gage and Peter Eriksson showed that the adult human brain produced new neurons in a similar area.

For some neuroscientists, neurogenesis in the adult brain is still an unproven theory. But others think the evidence offers intriguing possibilities about the role of adult-generated neurons in learning and memory.

Neuron

The Architecture of the Neuron
The central nervous system (which includes the brain and spinal cord) is made up of two basic types of cells: neurons (1) and glia (4) & (6). Glia outnumber neurons by a substantial amount -- some scientists have estimated it to be as large as nine to one -- but in spite of their smaller numbers, neurons are the key players in the brain.

Neurons are information messengers. They use electrical impulses and chemical signals to transmit information between different areas of the brain, and between the brain and the rest of the nervous system. Everything we think and feel and do would be impossible without the work of neurons and their support cells, the glial cells called astrocytes (4) and oligodendrocytes (6).

Neurons have three basic parts: a cell body and two extensions called an axon (5) and a dendrite (3). Within the cell body is a nucleus (2), which controls the cell’s activities and contains the cell’s genetic material. The axon looks like a long tail and transmits messages from the cell. Dendrites look like the branches of a tree and receive messages for the cell. Neurons communicate with each other by sending chemicals, called neurotransmitters, across a tiny space, called a synapse, between the axons and dendrites of adjacent neurons.

The architecture of the neuron.

There are three classes of neurons:

1. Sensory neurons carry information from the sense organs (such as the eyes and ears) to the brain.

2. Motor neurons have long axons and carry information from the central nervous system to the muscles and glands of the body.

3. Interneurons have short axons and communicate only within their immediate region.

Scientists think that neurons are the most diverse kind of cell in the body. Within these three classes of neurons are hundreds of different types, each with specific message-carrying abilities.

How these neurons communicate with each other by making connections is what makes each of us unique in how we think, and feel, and act.

Birth
The extent to which new neurons are generated in the brain is a controversial subject among neuroscientists. Although the majority of neurons are already present in our brains by the time we are born, there is evidence to support that neurogenesis (the scientific word for the birth of neurons) is a lifelong process.

Neurons are born in areas of the brain that are rich in concentrations of neural precursor cells (also called neural stem cells). These cells have the potential to generate most, if not all, of the different types of neurons and glia found in the brain.

Neuroscientists have observed how neural precursor cells behave in the laboratory. Although this may not be exactly how these cells behave when they are in the brain, it gives us information about how they could be behaving when they are in the brain’s environment.

The science of stem cells is still very new, and could change with additional discoveries, but researchers have learned enough to be able to describe how neural stem cells generate the other cells of the brain. They call it a stem cell’s lineage and it is similar in principle to a family tree.

Neural stem cells increase by dividing in two and producing either two new stem cells, or two early progenitor cells, or one of each.

When a stem cell divides to produce another stem cell, it is said to self-renew. This new cell has the potential to make more stem cells.

When a stem cell divides to produce an early progenitor cell, it is said to differentiate. Differentiation means that the new cell is more specialized in form and function. An early progenitor cell does not have the potential of a stem cell to make many different types of cells. It can only make cells in its particular lineage.

Early progenitor cells can self-renew or go in either of two ways. One type will give rise to astrocytes. The other type will ultimately produce neurons or oligodendrocytes.

Migration
Once a neuron is born it has to travel to the place in the brain where it will do its work.

How does a neuron know where to go? What helps it get there?

Scientists have seen that neurons use at least two different methods to travel:

Some neurons migrate by following the long fibers of cells called radial glia. These fibers extend from the inner layers to the outer layers of the brain. Neurons glide along the fibers until they reach their destination.
Neurons also travel by using chemical signals. Scientists have found special molecules on the surface of neurons -- adhesion molecules -- that bind with similar molecules on nearby glial cells or nerve axons. These chemical signals guide the neuron to its final location.
Not all neurons are successful in their journey. Scientists think that only a third reach their destination. The rest either never differentiate, or die and disappear at some point during the two to three week phase of migration.

Some neurons survive the trip, but end up where they shouldn’t be. Mutations in the genes that control migration create areas of misplaced or oddly formed neurons that can cause disorders such as childhood epilepsy or mental retardation. Some researchers suspect that schizophrenia and the learning disorder dyslexia are partly the result of misguided neurons.

Some neurons migrate by riding along extensions (radial glia) until they reach their final destinations.

Differentiation
Once a neuron reaches its destination, it has to settle in to work. This final step of differentiation is the least well-understood part of neurogenesis.

Neurons are responsible for the transport and uptake of neurotransmitters - chemicals that relay information between brain cells.

Depending on its location, a neuron can perform the job of a sensory neuron, a motor neuron, or an interneuron, sending and receiving specific neurotransmitters.

In the developing brain, a neuron depends on molecular signals from other cells, such as astrocytes, to determine its shape and location, the kind of transmitter it produces, and to which other neurons it will connect. These freshly born cells establish neural circuits - or information pathways connecting neuron to neuron - that will be in place throughout adulthood.

But in the adult brain, neural circuits are already developed and neurons must find a way to fit in. Researchers suspect that astrocytes play a similar role in the adult brain, actively regulating the function and synapse formation of new neurons.

As a new neuron settles in, it starts to look like surrounding cells. It develops an axon and dendrites and begins to communicate with its neighbors.

Stem cells differentiate to produce different types of nerve cells.

Death
Although neurons are the longest living cells in the body, large numbers of them die during migration and differentiation.

The lives of some neurons can take abnormal turns. Some diseases of the brain are the result of the unnatural deaths of neurons.

- In Parkinson’s disease, neurons that produce the neurotransmitter dopamine die off in the basal ganglia, an area of the brain that controls body movements. The brain can no longer control the body and people shake and jerk in spasms.

- In Huntington’s disease, a genetic mutation causes over-production of a neurotransmitter called glutamate, which kills neurons in the basal ganglia. As a result, people twist and writhe uncontrollably. (Ed.- Am I the only person who is uncomfortable with how they describe Huntington's Disease?)

- In Alzheimer’s disease, unusual proteins build up in and around neurons in the neocortex and hippocampus, parts of the brain that control memory. When these neurons die, people lose their capacity to remember and their ability to do everyday tasks. Physical damage to the brain and other parts of the central nervous system can also kill or disable neurons.

- Blows to the brain, or the damage caused by a stroke, can kill neurons outright or slowly starve them of the oxygen and nutrients they need to survive.

- Spinal cord injury can disrupt communication between the brain and muscles when neurons lose their connection to axons located below the site of injury. These neurons may still live, but they lose their ability to communicate.

One method of cell death results from the release of excess glutamate.

Macrophages (green) eat dying neurons in order to clear debris.

Hope Through Research
Scientists hope that by understanding more about the life and death of neurons they can develop new treatments, and possibly even cures, for brain diseases and disorders that affect the lives of millions of Americans.

The most current research suggests that neural stem cells can generate many, if not all, of the different types of neurons found in the brain and the nervous system. Learning how to manipulate these stem cells in the laboratory into specific types of neurons could produce a fresh supply of brain cells to replace those that have died or been damaged.

Therapies could also be created to take advantage of growth factors and other signaling mechanisms inside the brain that tell precursor cells to make new neurons. This would make it possible to repair, reshape, and renew the brain from within.

For information on other neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute's Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
(800) 352-9424
www.ninds.nih.gov

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

Reviewed July 3, 2003

Posted by Dave at 07:25 PM | Comments (0) | TrackBack

November 10, 2003

Exercise For The Brain

An article came out last weekend on a new study that found that exercise has a more positive effect on the brain the previously recognized. HD Lighthouse has the full article, check it out. If you haven't started an exercise program yet, now is the time to start. From the article:

“We found that the induction of BDNF in each age group rose significantly after one week of exercise,” says Cotman. When all the groups were tested with a task that is used to assess levels of depression, the old animals showed significant improvement. In fact, they performed as good as or even better at the task than the youngest animals."

Posted by Dave at 08:10 PM | Comments (0) | TrackBack

Thanks For Zeyad

A few days ago I posted about Zayed, the Iraqi blogger at Healing Iraq, who was considering quitting. All is better now, Zayed received over 860 emails and (across posts) over 200 online comments in support of his blog and what he is doing. Thanks to all who took the time to offer their support.

Posted by Dave at 06:28 PM | Comments (0) | TrackBack

November 09, 2003

Newspapers Gone Bad

Sometimes newspapers are more interested in selling a story than writing an accurate article. This press release from the newspaper chain Knight-Ridder is a particularly bad example of this behavior.

Touting an exclusive three-part "investigative" series they make the alarming statement that patients "are being injured and killed" with off-label use of medications. Off-label use is the common practice in medicine. When a drug goes through the FDA approval process it is tested for use for a specific condition. Safe dosage rates, potential side effects and positive effects are learned during this process. Doctors than use this information when determining when off-label use of a medication might be appropriate for a patient due to the lack of a good on-label medication.

According to Knight-Ridder "8,000 people became seriously ill last year" from popular drugs off-label. That sounds horrifying..lets stop this practice now! Oh, wait...that's out of 115 million off-label prescriptions they analyzed? That works out to (doing the numbers).... a 1 in 14,375 chance of becoming seriously ill from the off-label medication. For comparison...you're 30% MORE likely to be struck by lightning!

But wait! What about this horrible use of Thalidomine? After all it causes all those horrible birth defects and 99% of its use is off-label! Well, if you don't prescribe it to women who can become pregnant than there is no risk at of birth defects. Its on-label use is leprosy, but it's showing great promise in treating normally fatal diseases such as AIDS and certain cancers.

Doctor's prescribe off-label because there isn't a good on-label alternative. Since insurance companies generally don't cover off-label use there is already a big incentive to stay on-label if there is an alternative. Scare stories like this one are an embarrassment to the newspaper business and Knight-Ridder should issue a retraction and an apology (but they won't)!

Off-label use is an important issue to the Huntington's Disease community. It would take seven or more years for a potential treatment to make its way through the testing process and be approved as on-label. However, there are existing medications (such as an HDAC inhibititor and TUDCA) that may be very effective treatments for Huntington's Disease and they are being investigated now. Off-label availability is speeding up research and, if they prove effective, will be available years sooner than if only on-label prescriptions were allowed. This would save thousands of lives.

Based on their press release, Knight-Ridder placed little or no emphasis on the benefits of off-label prescriptions in order to make a more alarming story. Shame on them.

Here's their press release:

Knight Ridder (ticker: KRI, exchange: New York Stock Exchange) News Release - 11/2/03
--------------------------------------------------------------------------------
Knight Ridder Exclusive: Off-Label Drug Prescriptions Skyrocket in U.S.

Thousands Became Ill Last Year After Taking Nation's Most Popular Drugs
Off-Label
WASHINGTON, Nov. 2 -- A three-part investigative series by Knight Ridder Newspapers has found that patients nationwide are being injured and killed as doctors routinely prescribe drugs in ways the Food and Drug Administration has never approved as safe and effective. The study, based on a sample of top-selling drugs, found that the number of off-label prescriptions has nearly doubled in five years. The Knight Ridder analysis released today is perhaps the most comprehensive ever done of off-label prescribing.

The series by investigative reporters Alison Young and Chris Adams is based on interviews with patients, doctors, researchers and drug companies, and the review of thousands of records from lawsuits, government hearings and regulatory actions, medical records and scientific studies. The complete results will run over the next three days in Knight Ridder newspapers across the country.

Off-label prescribing is legal, widely accepted and defended by doctors and the American Medical Association. Victims of off-label prescribing interviewed by Knight Ridder have suffered heart attacks and strokes, had permanent nerve damage or lost their eyesight. Based on the FDA's own data, the report estimates that at least 8,000 people became seriously ill last year after taking some of the nation's most popular drugs for off-label purposes.

Among the report's findings on prevalence of off-label prescribing:
-- 21 percent of the prescriptions examined were for off-label uses
-- 115 million off-label prescriptions for the drugs analyzed by Knight
Ridder were written in the U.S. last year, nearly double the number of
five years ago
-- As many as 90 percent of the prescriptions for some drugs were
off-label uses.
-- Three-quarters of anti-seizure medications are prescribed off-label,
as are nearly two-thirds of antipsychotics and about one-quarter of
antidepressants

Some Drugs Sold Mostly for Unapproved Purposes
The report tracks some of the most widely prescribed drugs in the U.S. It found that doctors are giving their patients epilepsy drugs for depression, hot flashes and to help them lose weight. They use antidepressants to treat premature ejaculation and pain, and powerful antipsychotics for insomnia and attention deficit disorder. High blood-pressure pills are prescribed for headaches and anxiety; antibiotics are used to treat viruses.

Eight out of 10 prescriptions for the epilepsy drug Topamax aren't for epilepsy. Thalidomide, the morning-sickness drug that caused horrible birth defects and ushered in today's FDA drug-safety rules, even is on the market, and 99 percent of its prescriptions are off-label.

Methodology

To calculate how often drugs are prescribed off-label, Knight Ridder analyzed the three top-selling drugs in 15 classes of medications, comparing what doctors said they prescribed them for with the FDA's approval for each. The analysis looked at 900 million prescriptions written in 1998 and 2003 for more than 1,000 different ailments. Its estimate of the prevalence of off-label prescribing excluded cancer treatments or pediatric off-label uses, because they already are known to have a large percentage of off-label use.

To estimate how often patients are harmed by this practice, Knight Ridder reviewed the FDA's database of adverse drug reactions. The FDA estimates that only 1 to 10 percent of reactions are reported. Knight Ridder identified more than 800 reports filed during 2002 of serious reactions involving off-label prescriptions for its sample of 45 drugs. Experts say that means anywhere from 8,000 to 80,000 people probably were affected.

About Knight Ridder's Washington Bureau

The Knight Ridder Washington bureau serves Knight Ridder newspapers and the more than 350 client newspapers of the Knight Ridder/Tribune News Services, with Washington and international coverage. Bureau correspondents cover the White House, Congress, national security issues, the economy, legal affairs, law enforcement, science and other beats. Eight foreign correspondents are posted in major capitals around the world to bring international news home to Knight Ridder readers.

SOURCE Knight Ridder

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November 08, 2003

Forever Young Research

FuturePundit has an interesting entry on a drive to raise half a billion dollars for anti-aging research. He has some very interesting comments on the feasability of this research.

Research being done on Huntington's Disease would be (directly or indirectly) a key part of anti-aging research.

HD research has been studying the inner workings of neural cells learning what the various proteins and enzymes are doing in the lifecycle of the cells. The huntingtin protein seems to play a key roll in maintaining cell functions and much of the research geared toward treating Huntington's involves strategies toward prolong cell life.

The punch line:

"we don't really need to understand everything that goes wrong in aging. We just need to to be able to fix it." Sounds just like what is being done in HD research. These two research communities can definitely help each other.

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November 07, 2003

Changes Due To Spam

In the past few days I've had to delete 'comments' left on the blog that were nothing more than advertisements for x-rated websites, Viagra, and prescription diet pills. Since I'm sure my visitors are able to find such things on their own, I'll be making a change to the blog that will add a step to leaving a comment. This should end most of the spam.

Posted by Dave at 09:37 PM | Comments (0) | TrackBack

Immediate Action Needed

From HDSA...

Immediate Action Needed on Genetic Nondiscrimination Bill!

HDSA Advocates! We need your IMMEDIATE HELP in contacting Republican representatives to sign onto the attached letter from Representative Louise Slaughter to Speaker of the House Hastert to endorse House action on the recent Senate-passed S.1053 (Genetic Nondiscrimination).

Attached please find a list of Republican House representatives who endorsed the 106th Congress’ version of the Genetic Nondiscrimination Act but have yet to sign onto the new 107th Congress version (HR 1910). Please send each of them a copy of the letter from Rep. Slaughter to urge them to contact the Speaker of the House to move this important legislation to the forefront.

We cannot allow this issue to be waylaid until the second half of this Congressional session. Your elected representatives will be recessing for the holidays at Thanksgiving. We must take action now! Please contact one or more of the House representatives listed below TODAY! If you need phone numbers or emails, please go to the HDSA national web site at www.hdsa.org, (or got straight there by going to http://econstituent.votenet.com/hdsa) click on “Advocacy, ” then click on "Write your Congressman" and then "Econstituent". You will be taken to the home page for this advocacy tool. Follow the easy to use instructions to access email and phone numbers for specific representatives.

Rep. Tom Davis (R-VA)
Rep. Mike Ferguson (R-NJ)
Rep. Jim Gibbons (R-NV)
Rep. Bob Goodlatte (R-VA)
Rep. Melissa Hart (R-PA)
Rep. Tom Osbourne (R-NE)
Rep. Mark Souder (R-IN)
Rep. Charles Taylor (R-NC)
Rep. Todd Tihart (R-KS)
Rep. Fred Upton (R-MI)

The following DEMOCRATS have also not yet endorsed HR 1910:
Rep. Joe Baca (D-CA)
Rep. Richard Boucher (D-VA)
Re. Bud Cramer (D-AL)
Rep. Lloyd Doggett (D-TX)
Rep. Greg Meeks (D-NY)
Rep. Alan Mollohan (D-WV)
Rep. Solomon Ortiz (D-TX)
Rep. Nick Rahall (D-WV)
Rep. Bobby Scott (D-VA)
Rep. Vic Snyder (D-AR)
Rep. Charlie Stenholm (D-TX)
Please contact AFTER you contact the Republican representatives listed above.

Letter to above listed House Republicans and Democrats from Rep. Slaughter:

Dear Colleague:

You are invited to sign the attached letter to the House leadership, urging expedited consideration of S. 1053, the Genetic Information Nondiscrimination Act.

On October 14, the Senate passed S. 1053 unanimously, marking the first time Congress has addressed directly the issue of genetic discrimination in health insurance and employment. The product of more than two years of intensive negotiations, S. 1053 has the support of hundreds of organizations as well as the White House, which issued a positive Statement of Administration Policy.

Congress is already overdue in passing this important legislation. Too many Americans fear that the results of a genetic test could be used to deny them health insurance or a job. As a result, they are avoiding taking genetic tests or participating in genetic research. If we wish to safeguard the future of this research and ensure that all Americans can benefit from it, we must put in place a law that will ban genetic discrimination.

Please join us in urging the House leadership to bring up and pass S. 1053 as soon as possible. For more information, or to sign the letter, please contact Cindy Pellegrini with Rep. Slaughter at 53615.

Sincerely,

Louise Slaughter
Member of Congress

Sign On Letter from Representative to Speaker of the House:

Dear Mr. Speaker,

We urge you to schedule S. 1053, the Genetic Information Nondiscrimination Act, for House consideration as soon as possible.

Earlier this year, the National Human Genome Research Institute announced the complete mapping and sequencing of the human genome. This landmark achievement heralds a new era in medical research, with the potential of major advances in preventing, diagnosing, treating, and curing some of the most feared diseases known to humanity. Along with this tremendous promise, however, comes the possibility of the abuse of genetic information.

Every person is estimated to carry between five and fifty genetic mutations that predispose us to serious disorders. As such, we are all potential victims of genetic discrimination. Today no comprehensive federal law bans genetic discrimination in health insurance and employment. As a result, too many Americans are deciding not to take genetic tests because they fear this information could be used to undermine their health coverage or their jobs. This fear is also impacting genetic research, as fewer people are willing to participate in studies. Congress must act to rectify this situation, both to enable our constituents to make the best possible medical decisions for themselves and to preserve the viability of this critical research.

S. 1053, the Genetic Information Nondiscrimination Act, represents a reasonable compromise that takes into account both the concerns of patients and the needs of insurers and employers. This bill, which is sponsored jointly by majority and minority leadership in the Senate, is the product of almost two years of intensive discussion. It also enjoys the strong support of the White House. In the House of Representatives, a more expansive bill, H.R. 1910, has the support of over 220 bipartisan cosponsors and over 300 organizations. Clearly, there is ample support in the House to take up and pass genetic nondiscrimination legislation quickly and easily; S. 1053 would be an ideal candidate for consideration on the suspension calendar.

Timely passage of S. 1053 would represent a major victory for Congress, the White House, and the American people. We urge you to schedule this legislation for action so that it may be signed by the President before the first session of Congress adjourns.

Sincerely,

Louise Slaughter
Member of Congress Member of Congress

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November 06, 2003

Real Hope - Immunotherapy

"Huh? Immunotherapy for HD? That just doesn't make sense, does it?"

Yes, Huntington's Disease is genetic and immunotherapy usually involves giving vaccines to prevent viral diseases but...researchers are developing a vaccine that will create antibodies that attack the protein clumps created by the HD gene. If it works, there is a very good chance that it would keep those with the gene healthy just as a polio vaccine keeps individuals from developing polio.

According to this abstract from the Journal of Neurochemistry studies have "confirmed the feasibility of this strategy...(for) Huntington's disease". Here's the punchline:

"...real hope exists that effective immunotherapeutic treatments for neurodegenerative illnesses may be available in the near future."

Journal of Neurochemistry, Vol. 87, No. 4, 2003 801-808

Immunotherapy as a therapeutic treatment for neurodegenerative disorders
Anthony R. White and Simon H. Hawke

Neurochemistry Group, Howard Florey Institute of Experimental Physiology and Medicine, Victoria, Australia Department of Neurogenetics and MRC Prion Unit, Faculty of Medicine, Imperial College, London, UK

Human neurodegenerative illnesses such as Alzheimer's disease and Creutzfeldt-Jakob disease exact an enormous cost on individuals, families and society. For these and related disorders, current treatment is largely symptomatic without influencing the underlying disease process. Until recently, the development of immunotherapeutic approaches to neurodegenerative disorders had been almost completely ignored despite growing successes against other non-infectious diseases such as cancer. However, since Schenk and colleagues described the antibody-mediated clearance of amyloid plaques in a transgenic mouse model of Alzheimer's disease, a number of studies have confirmed the feasibility of this strategy for several neurodegenerative disorders including Huntington's disease and prion diseases. These reports offer the exciting prospect that either the immune system or its derivative components can be harnessed to fight the misfolded and/or aggregated proteins that accumulate in many neurodegenerative illnesses. If the remarkable power of clonal expansion, specificity and efficiency of the immune system can successfully inactivate these abnormal proteins, real hope exists that effective immunotherapeutic treatments for neurodegenerative illnesses may be available in the near future.

Abbreviations used: Aß, amyloid beta; AD, Alzheimer's disease; CJD, Creutzfeldt-Jakob disease; CNS, central nervous system; MHC, major histocompatibility complex; PD, Parkinson's disease; PrP, prion protein, PrPc; PrPSc, scrapie prion protein; RML, Rocky Mountain Laboratory; TCR, T-cell receptor

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November 05, 2003

Medicaid Editorial

The Washington Times has a good editorial on the current state of the Medicaid bill that is languishing in the conference committe.

One little tidbit about how the game of politics is played in Washington:

"The plan is to let members have it both ways: Reimportation will be allowed but with a safety clause mandating FDA certification, which effectively kills the option. "

Read the whole thing here.

Posted by Dave at 08:47 PM | Comments (0) | TrackBack

A Blogger's Hell

It's estimated that over a million blogs have been created. Probably only 1 in a 100 are updated regularly, most blogs last about as long as a typical New Years Resolution. Of those million blogs, only a few hundred become a mainstream success - read by thousands each day.

Recently, a new blog became a huge hit virtually overnight. The blog, Healing Iraq, is written by an Iraqi dentist living in Bagdad. Posting almost daily, his articles give real insight to what one Iraqi is going through. Whether you agree or disagree with his opinions, he gives a unique insite into a culture very different from that in the United States.

With the sudden fame and positive reviews, Zeyad has also received criticism. Lately it has gotten to be a bit much and he's considering giving up his blog.

This would be a shame. Visit Healing Iraq and see for yourself and if you are so inclined...leave a kind word for Zeyad.

Posted by Dave at 06:23 PM | Comments (0) | TrackBack

November 04, 2003

End The Discrimination

A few weeks ago a bill passed the Senate that would ban genetic discrimination. It has now moved over to the House for consideration. The Senate vote was 95-0 but that doesn't mean the bill will pass the house. There are those who feel that banning the use of genetic information is unfair to insurers and those without genetic diseases. Perhaps…but insurance is about spreading the costs and risks of health care and there are costs and risks that are carried solely by the Huntington's Disease community.

There are no absolutes with Huntington’s Disease. Even if you inherited the gene it doesn’t mean you will die from the disease. It is no longer a sure thing that Huntington’s Disease will do to this generation what it has done to generations past. Researchers and Doctors are now finding ways to slow down the disease and technology is rapidly solving the riddles of the disease and barriers to delivering a cure. The general consensus is now that an effective treatment or cure is less than ten years away.

“So,” you might be saying “then you don’t need to worry about discrimination!” And should you say such a foolish thing you would be wrong. The specter of genetic discrimination is killing people now. It’s clear that there are things that those with “the gene” can do with the help of their doctor to help them keep their health until the treatment/cure arrives. Instead they hide their risk from their doctors and those around them in order to protect themselves from losing their insurance or losing their job.

There are thousands of people living their lives believing they have the gene and they make their decisions accordingly. Some never pursue a career, others never save for retirement, and many avoid getting into relationships. I know several people who’ve lost their jobs and/or their insurance and I know many, many more who live in fear that they will be “discovered”. These are the real costs to genetic discrimination and it can end with the House passing the Genetic Discrimination bill.

Go to the HDSA San Diego website and read this article from “Anonymous”. His wonderfully written story shows the costs that are paid everyday by the HD community. Here are some highlights (thanks to Anonymous!):

“Hiding this painful predicament became a sad and wrenching experience… I have learned to put on a mask. It suggests that my life is just fine, when beneath the surface I worry constantly about my future, my mother, my child, and my wife. I often feel like crying out for help, but know that doing so could have serious consequences.”

“I take a walk with a close friend with whom I discuss almost everything -- and I hide this huge shadow over my life.”

“I get a medical checkup, but I can’t mention the threat hovering over me.”

“My wife, too, cannot unburden herself about HD to her closest friends for fear of the word getting into the wrong ears.”

“Hiding has so pervaded my life that sometimes HD no longer feels like a real threat. I tell myself, “It’s just a bad dream!” But at other moments it becomes agonizing to have to lie. I sometimes find myself growing resentful of others’ relative tranquility and freedom to express themselves.”

You can make a difference, read the entire article here, then call or write your representative in Congress and tell them why they need to vote for this bill. This tragedy doesn't have to continue!

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November 03, 2003

Cystamine

This isn't 'new' information, but this article is on one of the many potential treatments for Huntington's Disease that is on the horizon.

Scientists Identify Potential New Treatment for Huntington's Disease
Wednesday, February 27, 2002

A drug called cystamine alleviates tremors and prolongs life in mice with the gene mutation for Huntington's disease (HD), a new study shows. The drug appears to work by increasing the activity of proteins that protect nerve cells, or neurons, from degeneration. The study suggests that a similar treatment may one day be useful in humans with HD and related disorders.

Previous studies have identified several other drugs with potential for treating HD. However, cystamine appears to work differently than those drugs, and it may add to the benefits of other therapies if it is used in combination with them, says senior author Lawrence Steinman, M.D., of Stanford University in California. The study was supported by the National Institute of Neurological Disorders and Stroke (NINDS) and the Hereditary Disease Foundation. It appears in the February 2002 issue of Nature Medicine.

In HD, a defective gene produces an abnormal form of a protein named huntingtin. This abnormal protein triggers a process that kills neurons in a brain region called the corpus striatum and leads to the symptoms of the disorder. The abnormal protein aggregates, or clumps together, inside many kinds of neurons. Some researchers believe these clumps contribute to the problems seen in HD, although it is not yet clear if this is the case. Previous studies have found that cystamine inactivates an enzyme called transglutaminase which helps create the clumps of huntingtin protein.

In the study, lead scientist Marcela Karpuj, Ph.D., and colleagues injected cystamine into mice with an abnormal huntingtin gene. The mice that received the drug had fewer tremors and other abnormal movements and less weight loss than the untreated mice. They also lived about 20 percent longer. However, cystamine did not reduce the number of huntingtin clumps found in the brain.

Using gene chips, which can analyze the activity of many different genes at once, the researchers identified two genes that had increased activity in the mice treated with cystamine, as well as in brain tissue collected during autopsies of HD patients. A third, related gene had increased activity in HD patients but not in mice. Previous studies have shown that the proteins produced by these genes protect brain cells from damage. The presence of these proteins in brains of HD patients who were not treated with cystamine may result from a natural attempt at recovery that ultimately failed, the researchers say.

Cystamine may be able to stop huntingtin clumps from forming, even though it does not destroy clumps that are already there, says Dr. Steinman. If so, treatment earlier in the disease process may be able to prevent the clumps entirely. In addition, the protective proteins that increase with cystamine treatment may be able to disarm errant huntingtin proteins before they cause damage. For example, a recent study showed that the abnormal huntingtin protein interferes with another protein called CBP that is crucial for cell survival.

While these findings may lead to a new way of treating HD, they also may be relevant to other disorders, such as the spinocerebellar ataxias and spinobulbar muscular atrophy (SBMA), which have the same type of gene defect and the same kind of protein clumps as HD. The protective proteins identified in this study have also been found in several of these related diseases.

Cystamine is closely related to another drug called cysteamine that is approved to treat a kidney disease called cystinosis in humans. Researchers at Massachussetts General Hospital in Boston are now planning a clinical study of cysteamine for Huntington's disease. In addition, several other substances, including the antibiotic minocycline and the dietary supplement creatine, are currently being tested in clinical trials for Huntington's disease.

Reference: Karpuj MV, Becher MW, Springer JE, Chabas D, Youssef S, Pedotti R, Mitchell D, Steinman L. "Prolonged survival and decreased abnormal movements in transgenic model of Huntington's disease, with administration of the transglutaminase inhibitor cystamine." Nature Medicine, February 2002, Vol. 8, No. 2, pp. 143-149.

- By Natalie Frazin
NINDS

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November 02, 2003

Brief History Of Huntington's Disease

In 1872, the American physician George Huntington wrote about an illness that he called "an heirloom from generations away back in the dim past." He was not the first to describe the disorder, which has been traced back to the Middle Ages at least. One of its earliest names was chorea, which, as in "choreography," is the Greek word for dance. The term chorea describes how people affected with the disorder writhe, twist, and turn in a constant, uncontrollable dance-like motion. Later, other descriptive names evolved. "Hereditary chorea" emphasizes how the disease is passed from parent to child. "Chronic progressive chorea" stresses how symptoms of the disease worsen over time. Today, physicians commonly use the simple term Huntington's disease (HD) to describe this highly complex disorder that causes untold suffering for thousands of families.

In the United States alone, about 30,000 people have HD; estimates of its prevalence are about 1 in every 10,000 persons. At least 150,000 others have a 50 percent risk of developing the disease and thousands more of their relatives live with the possibility that they, too, might develop HD.

Until recently, scientists understood very little about HD and could only watch as the disease continued to pass from generation to generation. Families saw the disease destroy their loved ones' ability to feel, think, and move. In the last several years, scientists working with support from the National Institute of Neurological Disorders and Stroke (NINDS) have made several breakthroughs in the area of HD research. With these advances, our understanding of the disease continues to improve.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

Posted by Dave at 11:29 AM | Comments (0) | TrackBack

What Causes Huntington's Disease?

HD results from genetically programmed degeneration of nerve cells, called neurons,* in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance. Specifically affected are cells of the basal ganglia, structures deep within the brain that have many important functions, including coordinating movement. Within the basal ganglia, HD especially targets neurons of the striatum, particularly those in the caudate nuclei and the pallidum. Also affected is the brain's outer surface, or cortex, which controls thought, perception, and memory.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

Posted by Dave at 11:27 AM | Comments (2) | TrackBack

How is Huntington's Disease Inherited?

HD is found in every country of the world. It is a familial disease, passed from parent to child through a mutation or misspelling in the normal gene.

A single abnormal gene, the basic biological unit of heredity, produces HD. Genes are composed of deoxyribonucleic acid (DNA), a molecule shaped like a spiral ladder. Each rung of this ladder is composed of two paired chemicals called bases. There are four types of bases—adenine, thymine, cytosine, and guanine—each abbreviated by the first letter of its name: A, T, C, and G. Certain bases always "pair" together, and different combinations of base pairs join to form coded messages. A gene is a long string of this DNA in various combinations of A, T, C, and G. These unique combinations determine the gene's function, much like letters join together to form words. Each person has about 30,000 genes—a billion base pairs of DNA or bits of information repeated in the nuclei of human cells—which determine individual characteristics or traits.

Genes are arranged in precise locations along 23 rod-like pairs of chromosomes. One chromosome from each pair comes from an individual's mother, the other from the father. Each half of a chromosome pair is similar to the other, except for one pair, which determines the sex of the individual. This pair has two X chromosomes in females and one X and one Y chromosome in males. The gene that produces HD lies on chromosome 4, one of the 22 non-sex-linked, or "autosomal," pairs of chromosomes, placing men and women at equal risk of acquiring the disease.

The impact of a gene depends partly on whether it is dominant or recessive. If a gene is dominant, then only one of the paired chromosomes is required to produce its called-for effect. If the gene is recessive, both parents must provide chromosomal copies for the trait to be present. HD is called an autosomal dominant disorder because only one copy of the defective gene, inherited from one parent, is necessary to produce the disease.

The genetic defect responsible for HD is a small sequence of DNA on chromosome 4 in which several base pairs are repeated many, many times. The normal gene has three DNA bases, composed of the sequence CAG. In people with HD, the sequence abnormally repeats itself dozens of times. Over time—and with each successive generation—the number of CAG repeats may expand further.

Each parent has two copies of every chromosome but gives only one copy to each child. Each child of an HD parent has a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease and cannot pass it to subsequent generations. A person who inherits the HD gene, and survives long enough, will sooner or later develop the disease. In some families, all the children may inherit the HD gene; in others, none do. Whether one child inherits the gene has no bearing on whether others will or will not share the same fate.

A small number of cases of HD are sporadic, that is, they occur even though there is no family history of the disorder. These cases are thought to be caused by a new genetic mutation-an alteration in the gene that occurs during sperm development and that brings the number of CAG repeats into the range that causes disease.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

Posted by Dave at 11:26 AM | Comments (0) | TrackBack

What are the Major Effects of Huntington's Disease?

Early signs of the disease vary greatly from person to person. A common observation is that the earlier the symptoms appear, the faster the disease progresses.

Family members may first notice that the individual experiences mood swings or becomes uncharacteristically irritable, apathetic, passive, depressed, or angry. These symptoms may lessen as the disease progresses or, in some individuals, may continue and include hostile outbursts or deep bouts of depression.

HD may affect the individual's judgment, memory, and other cognitive functions. Early signs might include having trouble driving, learning new things, remembering a fact, answering a question, or making a decision. Some may even display changes in handwriting. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult.

In some individuals, the disease may begin with uncontrolled movements in the fingers, feet, face, or trunk. These movements—which are signs of chorea—often intensify when the person is anxious. HD can also begin with mild clumsiness or problems with balance. Some people develop choreic movements later, after the disease has progressed. They may stumble or appear uncoordinated. Chorea often creates serious problems with walking, increasing the likelihood of falls.

The disease can reach the point where speech is slurred and vital functions, such as swallowing, eating, speaking, and especially walking, continue to decline. Some individuals cannot recognize other family members. Many, however, remain aware of their environment and are able to express emotions.

Some physicians have employed a recently developed Unified HD Rating Scale, or UHDRS, to assess the clinical features, stages, and course of HD. In general, the duration of the illness ranges from 10 to 30 years. The most common causes of death are infection (most often pneumonia), injuries related to a fall, or other complications.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

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At What Age Does HD Appear?

The rate of disease progression and the age at onset vary from person to person. Adult-onset HD, with its disabling, uncontrolled movements, most often begins in middle age. There are, however, other variations of HD distinguished not just by age at onset but by a distinct array of symptoms. For example, some persons develop the disease as adults, but without chorea. They may appear rigid and move very little, or not at all, a condition called akinesia.

Some individuals develop symptoms of HD when they are very young—before age 20. The terms "early-onset" or "juvenile" HD are often used to describe HD that appears in a young person. A common sign of HD in a younger individual is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. Several of these symptoms are similar to those seen in Parkinson's disease, and they differ from the chorea seen in individuals who develop the disease as adults. These young individuals are said to have "akinetic-rigid" HD or the Westphal variant of HD. People with juvenile HD may also have seizures and mental disabilities. The earlier the onset, the faster the disease seems to progress. The disease progresses most rapidly in individuals with juvenile or early-onset HD, and death often follows within 10 years.

Individuals with juvenile HD usually inherit the disease from their fathers. These individuals also tend to have the largest number of CAG repeats. The reason for this may be found in the process of sperm production. Unlike eggs, sperm are produced in the millions. Because DNA is copied millions of times during this process, there is an increased possibility for genetic mistakes to occur. To verify the link between the number of CAG repeats in the HD gene and the age at onset of symptoms, scientists studied a boy who developed HD symptoms at the age of two, one of the youngest and most severe cases ever recorded. They found that he had the largest number of CAG repeats of anyone studied so far—nearly 100. The boy's case was central to the identification of the HD gene and at the same time helped confirm that juveniles with HD have the longest segments of CAG repeats, the only proven correlation between repeat length and age at onset.

A few individuals develop HD after age 55. Diagnosis in these people can be very difficult. The symptoms of HD may be masked by other health problems, or the person may not display the severity of symptoms seen in individuals with HD of earlier onset. These individuals may also show symptoms of depression rather than anger or irritability, or they may retain sharp control over their intellectual functions, such as memory, reasoning, and problem-solving.

There is also a related disorder called senile chorea. Some elderly individuals display the symptoms of HD, especially choreic movements, but do not become demented, have a normal gene, and lack a family history of the disorder. Some scientists believe that a different gene mutation may account for this small number of cases, bu this has not been proven.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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How is HD Diagnosed?

The great American folk singer and composer Woody Guthrie died on October 3, 1967, after suffering from HD for 13 years. He had been misdiagnosed, considered an alcoholic, and shuttled in and out of mental institutions and hospitals for years before being properly diagnosed. His case, sadly, is not extraordinary, although the diagnosis can be made easily by experienced neurologists.

A neurologist will interview the individual intensively to obtain the medical history and rule out other conditions. A tool used by physicians to diagnose HD is to take the family history, sometimes called a pedigree or genealogy. It is extremely important for family members to be candid and truthful with a doctor who is taking a family history.

The doctor will also ask about recent intellectual or emotional problems, which may be indications of HD, and will test the person's hearing, eye movements, strength, coordination, involuntary movements (chorea), sensation, reflexes, balance, movement, and mental status, and will probably order a number of laboratory tests as well.

People with HD commonly have impairments in the way the eye follows or fixes on a moving target. Abnormalities of eye movements vary from person to person and differ, depending on the stage and duration of the illness.

The discovery of the HD gene in 1993 resulted in a direct genetic test to make or confirm a diagnosis of HD in an individual who is exhibiting HD-like symptoms. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of repeats in the HD gene region. Individuals who do not have HD usually have 28 or fewer CAG repeats. Individuals with HD usually have 40 or more repeats. A small percentage of individuals, however, have a number of repeats that fall within a borderline region (see table 1).

Table 1
No. of CAG repeats	Outcome
<28	Normal range; individual will not develop HD
29-34	Individual will not develop HD but the next generation is at risk
35-39	Some, but not all, individuals in this range will develop HD; next generation is also at risk
>40	Individual will develop HD

The physician may ask the individual to undergo a brain imaging test. Computed tomography (CT) and magnetic resonance imaging (MRI) provide excellent images of brain structures with little if any discomfort. Those with HD may show shrinkage of some parts of the brain—particularly two areas known as the caudate nuclei and putamen—and enlargement of fluid-filled cavities within the brain called ventricles. These changes do not definitely indicate HD, however, because they can also occur in other disorders. In addition, a person can have early symptoms of HD and still have a normal CT scan. When used in conjunction with a family history and record of clinical symptoms, however, CT can be an important diagnostic tool.

Another technology for brain imaging includes positron emission tomography (PET,) which is important in HD research efforts but is not often needed for diagnosis.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

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What is Presymptomatic Testing?

Presymptomatic testing is used for people who have a family history of HD but have no symptoms themselves. If either parent had HD, the person's chance would be 50-50. In the past, no laboratory test could positively identify people carrying the HD gene—or those fated to develop HD—before the onset of symptoms. That situation changed in 1983, when a team of scientists supported by the NINDS located the first genetic marker for HD—the initial step in developing a laboratory test for the disease.

A marker is a piece of DNA that lies near a gene and is usually inherited with it. Discovery of the first HD marker allowed scientists to locate the HD gene on chromosome 4. The marker discovery quickly led to the development of a presymptomatic test for some individuals, but this test required blood or tissue samples from both affected and unaffected family members in order to identify markers unique to that particular family. For this reason, adopted individuals, orphans, and people who had few living family members were unable to use the test.

Discovery of the HD gene has led to a less expensive, scientifically simpler, and far more accurate presymptomatic test that is applicable to the majority of at-risk people. The new test uses CAG repeat length to detect the presence of the HD mutation in blood. This is discussed further in the next section.

There are many complicating factors that reflect the complexity of diagnosing HD. In a small number of individuals with HD—1 to 3 percent—no family history of HD can be found. Some individuals may not be aware of their genetic legacy, or a family member may conceal a genetic disorder from fear of social stigma. A parent may not want to worry children, scare them, or deter them from marrying. In other cases, a family member may die of another cause before he or she begins to show signs of HD. Sometimes, the cause of death for a relative may not be known, or the family is not aware of a relative's death. Adopted children may not know their genetic heritage, or early symptoms in an individual may be too slight to attract attention.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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How is the Presymptomatic Test Conducted?

An individual who wishes to be tested should contact the nearest testing center. (A list of such centers can be obtained from the Huntington Disease Society of America at 1-800-345-HDSA.) The testing process should include several components. Most testing programs include a neurological examination, pretest counseling, and followup. The purpose of the neurological examination is to determine whether or not the person requesting testing is showing any clinical symptoms of HD. It is important to remember that if an individual is showing even slight symptoms of HD, he or she risks being diagnosed with the disease during the neurological examination, even before the genetic test. During pretest counseling, the individual will learn about HD, and about his or her own level of risk, about the testing procedure. The person will be told about the test's limitations, the accuracy of the test, and possible outcomes. He or she can then weigh the risks and benefits of testing and may even decide at that time against pursuing further testing.

If a person decides to be tested, a team of highly trained specialists will be involved, which may include neurologists, genetic counselors, social workers, psychiatrists, and psychologists. This team of professionals helps the at-risk person decide if testing is the right thing to do and carefully prepares the person for a negative, positive, or inconclusive test result.

Individuals who decide to continue the testing process should be accompanied to counseling sessions by a spouse, a friend, or a relative who is not at risk. Other interested family members may participate in the counseling sessions if the individual being tested so desires.

The genetic testing itself involves donating a small sample of blood that is screened in the laboratory for the presence or absence of the HD mutation. Testing may require a sample of DNA from a closely related affected relative, preferably a parent, for the purpose of confirming the diagnosis of HD in the family. This is especially important if the family history for HD is unclear or unusual in some way.

Results of the test should be given only in person and only to the individual being tested. Test results are confidential. Regardless of test results, followup is recommended.

In order to protect the interests of minors, including confidentiality, testing is not recommended for those under the age of 18 unless there is a compelling medical reason (for example, the child is exhibiting symptoms).

Testing of a fetus (prenatal testing) presents special challenges and risks; in fact some centers do not perform genetic testing on fetuses. Because a positive test result using direct genetic testing means the at-risk parent is also a gene carrier, at-risk individuals who are considering a pregnancy are advised to seek genetic counseling prior to conception.

Some at-risk parents may wish to know the risk to their fetus but not their own. In this situation, parents may opt for prenatal testing using linked DNA markers rather than direct gene testing. In this case, testing does not look for the HD gene itself but instead indicates whether or not the fetus has inherited a chromosome 4 from the affected grandparent or from the unaffected grandparent on the side of the family with HD. If the test shows that the fetus has inherited a chromosome 4 from the affected grandparent, the parents then learn that the fetus's risk is the same as the parent (50-50), but they learn nothing new about the parent's risk. If the test shows that the fetus has inherited a chromosome 4 from the unaffected grandparent, the risk to the fetus is very low (less than 1%) in most cases.

Another option open to parents is in vitro fertilization with preimplantation screening. In this procedure, embryos are screened to determine which ones carry the HD mutation. Embryos determined not to have the HD gene mutation are then implanted in the woman's uterus.

In terms of emotional and practical consequences, not only for the individual taking the test but for his or her entire family, testing is enormously complex and has been surrounded by considerable controversy. For example, people with a positive test result may risk losing health and life insurance, suffer loss of employment, and other liabilities. People undergoing testing may wish to cover the cost themselves, since coverage by an insurer may lead to loss of health insurance in the event of a positive result, although this may change in the future.

With the participation of health professionals and people from families with HD, scientists have developed testing guidelines. All individuals seeking a genetic test should obtain a copy of these guidelines, either from their testing center or from the organizations listed on the card in the back of this brochure. These organizations have information on sites that perform testing using the established procedures and they strongly recommend that individuals avoid testing that does not adhere to these guidelines.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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How Does a Person Decide Whether to be Tested?

The anxiety that comes from living with a 50 percent risk for HD can be overwhelming. How does a young person make important choices about long-term education, marriage, and children? How do older parents of adult children cope with their fears about children and grandchildren? How do people come to terms with the ambiguity and uncertainty of living at risk?

Some individuals choose to undergo the test out of a desire for greater certainty about their genetic status. They believe the test will enable them to make more informed decisions about the future. Others choose not to take the test. They are able to make peace with the uncertainty of being at risk, preferring to forego the emotional consequences of a positive result, as well as possible losses of insurance and employment. There is no right or wrong decision, as each choice is highly individual. The guidelines for genetic testing for HD, discussed in the previous section, were developed to help people with this life-changing choice.

Whatever the results of genetic testing, the at-risk individual and family members can expect powerful and complex emotional responses. The health and happiness of spouses, brothers and sisters, children, parents, and grandparents are affected by a positive test result, as are an individual's friends, work associates, neighbors, and others. Because receiving test results may prove to be devastating, testing guidelines call for continued counseling even after the test is complete and the results are known.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Is There a Treatment for Huntington's Disease?

Physicians may prescribe a number of medications to help control emotional and movement problems associated with HD. It is important to remember however, that while medicines may help keep these clinical symptoms under control, there is no treatment to stop or reverse the course of the disease.

Antipsychotic drugs, such as haloperidol, or other drugs, such as clonazepam, may help to alleviate choreic movements and may also be used to help control hallucinations, delusions, and violent outbursts. Antipsychotic drugs, however, are not prescribed for another form of muscle contraction associated with HD, called dystonia, and may in fact worsen the condition, causing stiffness and rigidity. These medications may also have severe side effects, including sedation, and for that reason should be used in the lowest possible doses.

For depression, physicians may prescribe fluoxetine, sertraline, nortriptyline, or other compounds. Tranquilizers can help control anxiety and lithium may be prescribed to combat pathological excitement and severe mood swings. Medications may also be needed to treat the severe obsessive-compulsive rituals of some individuals with HD.

Most drugs used to treat the symptoms of HD have side effects such as fatigue, restlessness, or hyperexcitability. Sometimes it may be difficult to tell if a particular symptom, such as apathy or incontinence, is a sign of the disease or a reaction to medication.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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What Kind of Care Does the Individual with HD Need?

Although a psychologist or psychiatrist, a genetic counselor, and other specialists may be needed at different stages of the illness, usually the first step in diagnosis and in finding treatment is to see a neurologist. While the family doctor may be able to diagnose HD, and may continue to monitor the individual's status, it is better to consult with a neurologist about management of the varied symptoms.

Problems may arise when individuals try to express complex thoughts in words they can no longer pronounce intelligibly. It can be helpful to repeat words back to the person with HD so that he or she knows that some thoughts are understood. Sometimes people mistakenly assume that if individuals do not talk, they also do not understand. Never isolate individuals by not talking, and try to keep their environment as normal as possible. Speech therapy may improve the individual's ability to communicate.

It is extremely important for the person with HD to maintain physical fitness as much as his or her condition and the course of the disease allows. Individuals who exercise and keep active tend to do better than those who do not. A daily regimen of exercise can help the person feel better physically and mentally. Although their coordination may be poor, individuals should continue walking, with assistance if necessary. Those who want to walk independently should be allowed to do so as long as possible, and careful attention should be given to keeping their environment free of hard, sharp objects. This will help ensure maximal independence while minimizing the risk of injury from a fall. Individuals can also wear special padding during walks to help protect against injury from falls. Some people have found that small weights around the ankles can help stability. Wearing sturdy shoes that fit well can help too, especially shoes without laces that can be slipped on or off easily.

Impaired coordination may make it difficult for people with HD to feed themselves and to swallow. As the disease progresses, persons with HD may even choke. In helping individuals to eat, caregivers should allow plenty of time for meals. Food can be cut into small pieces, softened, or pureed to ease swallowing and prevent choking. While some foods may require the addition of thickeners, other foods may need to be thinned. Dairy products, in particular, tend to increase the secretion of mucus, which in turn increases the risk of choking. Some individuals may benefit from swallowing therapy, which is especially helpful if started before serious problems arise. Suction cups for plates, special tableware designed for people with disabilities, and plastic cups with tops can help prevent spilling. The individual's physician can offer additional advice about diet and about how to handle swallowing difficulties or gastrointestinal problems that might arise, such as incontinence or constipation.

Caregivers should pay attention to proper nutrition so that the individual with HD takes in enough calories to maintain his or her body weight. Sometimes people with HD, who may burn as many as 5,000 calories a day without gaining weight, require five meals a day to take in the necessary number of calories. Physicians may recommend vitamins or other nutritional supplements. In a long-term care institution, staff will need to assist with meals in order to ensure that the individual's special caloric and nutritional requirements are met. Some individuals and their families choose to use a feeding tube; others choose not to.

Individuals with HD are at special risk for dehydration and therefore require large quantities of fluids, especially during hot weather. Bendable straws can make drinking easier for the person. In some cases, water may have to be thickened with commercial additives to give it the consistency of syrup or honey.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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What Community Resources are Available?

Individuals and families affected by Huntington's Disease can take steps to ensure that they receive the best advice and care possible. Physicians and state and local health service agencies can provide information on community resources and family support groups that may exist. Possible types of help include:

Legal and social aid. HD affects a person's capacity to reason, make judgments, and handle responsibilities. Individuals may need help with legal affairs. Wills and other important documents should be drawn up early to avoid legal problems when the person with HD may no longer be able to represent his or her own interests. Family members should also seek out assistance if they face discrimination regarding insurance, employment, or other matters.

Home care services. Caring for a person with HD at home can be exhausting, but part-time assistance with household chores or physical care of the individual can ease this burden. Domestic help, meal programs, nursing assistance, occupational therapy, or other home services may be available from federal, state, or local health service agencies.

Recreation and work centers. Many people with HD are eager and able to participate in activities outside the home. Therapeutic work and recreation centers give individuals an opportunity to pursue hobbies and interests and to meet new people. Participation in these programs, including occupational, music, and recreational therapy, can reduce the person's dependence on family members and provides home caregivers with a temporary, much needed break.

Group housing. A few communities have group housing facilities that are supervised by a resident attendant and that provide meals, housekeeping services, social activities, and local transportation services for residents. These living arrangements are particularly suited to the needs of individuals who are alone and who, although still independent and capable, risk injury when they undertake routine chores like cooking and cleaning.

Institutional care. The individual's physical and emotional demands on the family may eventually become overwhelming. While many families may prefer to keep relatives with HD at home whenever possible, a long-term care facility may prove to be best. To hospitalize or place a family member in a care facility is a difficult decision; professional counseling can help families with this.

Finding the proper facility can itself prove difficult. Organizations such as the Huntington's Disease Society of America (see listing on the Information Resources card in the back pocket of this brochure) may be able to refer the family to facilities that have met standards set for the care of individuals with HD. Very few of these exist however, and even fewer have experience with individuals with juvenile or early-onset HD who require special care because of their age and symptoms.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

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What Research is Being Done?

Although HD attracted considerable attention from scientists in the early 20th century, there was little sustained research on the disease until the late 1960s when the Committee to Combat Huntington's Disease and the Huntington's Chorea Foundation, later called the Hereditary Disease Foundation, first began to fund research and to campaign for federal funding. In 1977, Congress established the Commission for the Control of Huntington's Disease and Its Consequences, which made a series of important recommendations. Since then, Congress has provided consistent support for federal research, primarily through the National Institute of Neurological Disorders and Stroke, the government's lead agency for biomedical research on disorders of the brain and nervous system. The effort to combat HD proceeds along the following lines of inquiry, each providing important information about the disease:

Basic neurobiology. Now that the HD gene has been located, investigators in the field of neurobiology-which encompasses the anatomy, physiology, and biochemistry of the nervous system-are continuing to study the HD gene with an eye toward understanding how it causes disease in the human body.

Clinical research. Neurologists, psychologists, psychiatrists, and other investigators are improving our understanding of the symptoms and progression of the disease in patients while attempting to develop new therapeutics.

Imaging. Scientific investigations using PET and other technologies are enabling scientists to see what the defective gene does to various structures in the brain and how it affects the body's chemistry and metabolism.

Animal models. Laboratory animals, such as mice, are being bred in the hope of duplicating the clinical features of HD and can soon be expected to help scientists learn more about the symptoms and progression of the disease.

Fetal tissue research. Investigators are implanting fetal tissue in rodents and nonhuman primates with the hope that success in this area will lead to understanding, restoring, or replacing functions typically lost by neuronal degeneration in individuals with HD.

These areas of research are slowly converging and, in the process, are yielding important clues about the gene's relentless destruction of mind and body. The NINDS supports much of this exciting work.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Molecular Genetics & Huntington's Disease

For 10 years, scientists focused on a segment of chromosome 4 and, in 1993, finally isolated the HD gene. The process of isolating the responsible gene—motivated by the desire to find a cure—was more difficult than anticipated. Scientists now believe that identifying the location of the HD gene is the first step on the road to a cure.

Finding the HD gene involved an intense molecular genetics research effort with cooperating investigators from around the globe. In early 1993, the collaborating scientists announced they had isolated the unstable triplet repeat DNA sequence that has the HD gene. Investigators relied on the NINDS-supported Research Roster for Huntington's Disease, based at Indiana University in Indianapolis, to accomplish this work. First started in 1979, the roster contains data on many American families with HD, provides statistical and demographic data to scientists, and serves as a liaison between investigators and specific families. It provided the DNA from many families affected by HD to investigators involved in the search for the gene and was an important component in the identification of HD markers.

For several years, NINDS-supported investigators involved in the search for the HD gene made yearly visits to the largest known kindred with HD—14,000 individuals—who live on Lake Maracaibo in Venezuela. The continuing trips enable scientists to study inheritance patterns of several interrelated families.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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The HD Gene and Its Product

Although scientists know that certain brain cells die in HD, the cause of their death is still unknown. Recessive diseases are usually thought to result from a gene that fails to produce adequate amounts of a substance essential to normal function. This is known as a loss-of-function gene. Some dominantly inherited disorders, such as HD, are thought to involve a gene that actively interferes with the normal function of the cell. This is known as a gain-of-function gene.

How does the defective HD gene cause harm? The HD gene encodes a protein—which has been named huntingtin—the function of which is as yet unknown. The repeated CAG sequence in the gene causes an abnormal form of huntingtin to be made, in which the amino acid glutamine is repeated. It is the presence of this abnormal form, and not the absence of the normal form, that causes harm in HD. This explains why the disease is dominant and why two copies of the defective gene—one from both the mother and the father—do not cause a more serious case than inheritance from only one parent. With the HD gene isolated, NINDS-supported investigators are now turning their attention toward discovering the normal function of huntingtin and how the altered form causes harm. Scientists hope to reproduce, study, and correct these changes in animal models of the disease.

Huntingtin is found everywhere in the body but only outside the cell's nucleus. Mice called "knockout mice" are bred in the laboratory to produce no huntingtin; they fail to develop past a very early embryo stage and quickly die. Huntingtin, scientists now know, is necessary for life. Investigators hope to learn why the abnormal version of the protein damages only certain parts of the brain. One theory is that cells in these parts of the brain may be supersensitive to this abnormal protein.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Cell Death in Huntington's Disease

Although the precise cause of cell death in HD is not yet known, scientists are paying close attention to the process of genetically programmed cell death that occurs deep within the brains of individuals with HD. This process involves a complex series of interlinked events leading to cellular suicide. Related areas of investigation include:

Excitotoxicity. Overstimulation of cells by natural chemicals found in the brain.

Defective energy metabolism. A defect in the power plant of the cell, called mitochondria, where energy is produced.

Oxidative stress. Normal metabolic activity in the brain that produces toxic compounds called free radicals.

Trophic factors. Natural chemical substances found in the human body that may protect against cell death.

Several HD studies are aimed at understanding losses of nerve cells and receptors in HD. Neurons in the striatum are classified both by their size (large, medium, or small) and appearance (spiny or aspiny). Each type of neuron contains combinations of neurotransmitters. Scientists know that the destructive process of HD affects different subsets of neurons to varying degrees. The hallmark of HD, they are learning, is selective degeneration of medium-sized spiny neurons in the striatum. NINDS-supported studies also suggest that losses of certain types of neurons and receptors are responsible for different symptoms and stages of HD.

What do these changes look like? In spiny neurons, investigators have observed two types of changes, each affecting the nerve cells' dendrites. Dendrites, found on every nerve cell, extend out from the cell body and are responsible for receiving messages from other nerve cells. In the intermediate stages of HD, dendrites grow out of control. New, incomplete branches form and other branches become contorted. In advanced, severe stages of HD, degenerative changes cause sections of dendrites to swell, break off, or disappear altogether. Investigators believe that these alterations may be an attempt by the cell to rebuild nerve cell contacts lost early in the disease. As the new dendrites establish connections, however, they may in fact contribute to nerve cell death. Such studies give compelling, visible evidence of the progressive nature of HD and suggest that new experimental therapies must consider the state of cellular degeneration. Scientists do not yet know exactly how these changes affect subsets of nerve cells outside the striatum.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Animal Models of Huntington's Disease

As more is learned about cellular degeneration in HD, investigators hope to reproduce these changes in animal models and to find a way to correct or halt the process of nerve cell death. Such models serve the scientific community in general by providing a means to test the safety of new classes of drugs in nonhuman primates. NINDS-supported scientists are currently working to develop both nonhuman primate and mouse models to investigate nerve degeneration in HD and to study the effects of excitotoxicity on nerve cells in the brain.

Investigators are working to build genetic models of HD using transgenic mice. To do this, scientists transfer the altered human HD gene into mouse embryos so that the animals will develop the anatomical and biological characteristics of HD. This genetic model of mouse HD will enable in-depth study of the disease and testing of new therapeutic compounds.

Another idea is to insert into mice a section of DNA containing CAG repeats in the abnormal, disease gene range. This mouse equivalent of HD could allow scientists to explore the basis of CAG instability and its role in the disease process.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Fetal Tissue Research

A relatively new field in biomedical research involves the use of brain tissue grafts to study, and potentially treat, neurodegenerative disorders. In this technique, tissue that has degenerated is replaced with implants of fresh, fetal tissue, taken at the very early stages of development. Investigators are interested in applying brain tissue implants to HD research. Extensive animal studies will be required to learn if this technique could be of value in patients with HD.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

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Clinical Studies

Scientists are pursuing clinical studies that may one day lead to the development of new drugs or other treatments to halt the disease's progression. Examples of NINDS-supported investigations, using both asymptomatic and symptomatic individuals, include:

Genetic studies on age of onset, inheritance patterns, and markers found within families. These studies may shed additional light on how HD is passed from generation to generation.

Studies of cognition, intelligence, and movement. Studies of abnormal eye movements, both horizontal and vertical, and tests of patients' skills in a number of learning, memory, neuropsychological, and motor tasks may serve to identify when the various symptoms of HD appear and to characterize their range and severity.

Clinical trials of drugs. Testing of various drugs may lead to new treatments and at the same time improve our understanding of the disease process in HD. Classes of drugs being tested include those that control symptoms, slow the rate of progression of HD, and block effects of excitotoxins, and those that might correct or replace other metabolic defects contributing to the development and progression of HD.

Imaging

NINDS-supported scientists are using positron emission tomography (PET) to learn how the gene affects the chemical systems of the body. PET visualizes metabolic or chemical abnormalities in the body, and investigators hope to ascertain if PET scans can reveal any abnormalities that signal HD. Investigators conducting HD research are also using PET to characterize neurons that have died and chemicals that are depleted in parts of the brain affected by HD.

Like PET, a form of magnetic resonance imaging (MRI) called functional MRI can measure increases or decreases in certain brain chemicals thought to play a key role in HD. Functional MRI studies are also helping investigators understand how HD kills neurons in different regions of the brain.

Imaging technologies allow investigators to view changes in the volume and structures of the brain and to pinpoint when these changes occur in HD. Scientists know that in brains affected by HD, the basal ganglia, cortex, and ventricles all show atrophy or other alterations.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

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How Can I Help?

In order to conduct HD research, investigators require samples of tissue or blood from families with HD. Access to individuals with HD and their families may be difficult however, because families with HD are often scattered across the country or around the world. A research project may need individuals of a particular age or gender or from a certain geographic area. Some scientists need only statistical data while others may require a sample of blood, urine, or skin from family members. All of these factors complicate the task of finding volunteers. The following NINDS-supported efforts bring together families with HD, voluntary health agencies, and scientists in an effort to advance science and speed a cure.

The NINDS-sponsored HD Research Roster at the Indiana University Medical Center in Indianapolis, which was discussed earlier, makes research possible by matching scientists with patient and family volunteers. The first DNA bank was established through the roster. Although the gene has already been located, DNA from individuals who have HD is still of great interest to investigators. Of continuing interest are twins, unaffected individuals who have affected offspring, and individuals with two defective HD genes, one from each parent-a very rare occurrence. Participation in the roster and in specific research projects is voluntary and confidential. For more information about the roster and DNA bank, contact:

Indiana University Medical Center
Department of Medical and Molecular Genetics
Medical Research and Library Building
975 W. Walnut Street
Indianapolis, IN 46202-5251
(317) 274-5744 (call collect)

Brain tissue is also critical to the HD research effort, and many individuals are willing to donate their brains and other organs to research after they die. The NINDS supports two national human brain specimen banks, one at the Greater Los Angeles Health Care System, and the other at McLean Hospital near Boston. These banks supply investigators around the world with tissue not only from individuals with HD but also from those with other neurological or psychiatric diseases. Both banks need brain tissue to enable scientists to study these disorders more intensely. Prospective donors should contact:

Dr. Wallace W. Tourtellotte, Director
National Neurological Research Specimen Bank
Greater Los Angeles Health Care System
11301 Wilshire Boulevard
Los Angeles, California 90073
(310) 268-3536

Dr. Edward D. Bird, Director
Brain Tissue Bank, Mailman Research Center
McLean Hospital
115 Mill Street
Belmont, Massachusetts 02178
800-BRAIN-BANK (800-272-4622)
(617) 855-2400

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

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What is the Role of Voluntary Organizations?

Private organizations have been a mainstay of support and guidance for at-risk individuals, people with HD, and their families. These organizations vary in size and emphasis, but all are concerned with helping individuals and their families, educating lay and professional audiences about HD, and promoting medical research on the disorder. Some voluntary health agencies support scientific workshops and research and some have newsletters and local chapters throughout the country. These agencies enable families, health professionals, and investigators to exchange information, learn of available services and benefits, and work toward common goals.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

Posted by Dave at 10:49 AM | Comments (0) | TrackBack

Huntington's Disease Glossary

akinesia-decreased body movements.

at-risk -a description of a person whose mother or father has HD or has inherited the HD gene and who therefore has a 50-50 chance of inheriting the disorder.

autosomal dominant disorder -a non-sex-linked disorder that can be inherited even if only one parent passes on the defective gene.

basal ganglia -a region located at the base of the brain composed of four clusters of neurons, or nerve cells. This area is responsible for body movement and coordination. The neuron groups most prominently and consistently affected by HD—the pallidum and striatum—are located here. See neuron, pallidum, striatum.

caudate nuclei -part of the striatum in the basal ganglia. See basal ganglia, striatum.

chorea -uncontrolled body movements. Chorea is derived from the Greek word for dance.

chromosomes -the structures in cells that contain genes. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, appear as rod-like structures. See deoxyribonucleic acid (DNA), gene.

computed tomography (CT)- a technique used for diagnosing brain disorders. CT uses a computer to produce a high-quality image of brain structures. These images are called CT scans.

cortex -part of the brain responsible for thought, perception, and memory. HD affects the basal ganglia and cortex. See basal ganglia.

deoxyribonucleic acid (DNA)- the substance of heredity containing the genetic information necessary for cells to divide and produce proteins. DNA carries the code for every inherited characteristic of an organism. See gene.

dominant -a trait that is apparent even when the gene for that disorder is inherited from only one parent. See autosomal dominant disorder, recessive, gene.

gene -the basic unit of heredity, composed of a segment of DNA containing the code for a specific trait. See deoxyribonucleic acid (DNA).

huntingtin -the protein encoded by the gene that carries the HD defect. The repeated CAG sequence in the gene causes an abnormal form of huntingtin to be formed. The function of the normal form of huntingtin is not yet known.

kindred -a group of related persons, such as a family or clan.

magnetic resonance imaging (MRI) -an imaging technique that uses radiowaves, magnetic fields, and computer analysis to create a picture of body tissues and structures.

marker -a piece of DNA that lies on the chromosome so close to a gene that the two are inherited together. Like a signpost, markers are used during genetic testing and research to locate the nearby presence of a gene. See chromosome, deoxyribonucleic acid (DNA).

mitochondria -microscopic, energy-producing bodies within cells that are the cells' "power plants."

mutation -in genetics, any defect in a gene. See gene.

myoclonus -a condition in which muscles or portions of muscles contract involuntarily in a jerky fashion.

neuron -Greek word for a nerve cell, the basic impulse-conducting unit of the nervous system. Nerve cells communicate with other cells through an electrochemical process called neurotransmission.

neurotransmitters -special chemicals that transmit nerve impulses from one cell to another.

pallidum -part of the basal ganglia of the brain. The pallidum is composed of the globus pallidus and the ventral pallidum. See basal ganglia.

positron emission tomography (PET)- a tool used to diagnose brain functions and disorders. PET produces three-dimensional, colored images of chemicals or substances functioning within the body. These images are called PET scans. PET shows brain function, in contrast to CT or MRI, which show brain structure.

prevalence -the number of cases of a disease that are present in a particular population at a given time.

putamen -an area of the brain that decreases in size as a result of the damage produced by HD.

receptor -proteins that serve as recognition sites on cells and cause a response in the body when stimulated by chemicals called neurotransmitters. They act as on-and-off switches for the next nerve cell. See neuron, neurotransmitters.

recessive -a trait that is apparent only when the gene or genes for it are inherited from both parents. See dominant, gene.

senile chorea -a relatively mild and rare disorder found in elderly adults and characterized by choreic movements. It is believed by some scientists to be caused by a different gene mutation than that causing HD.

striatum -part of the basal ganglia of the brain. The striatum is composed of the caudate nucleus, putamen, and ventral striatum. See basal ganglia, caudate nuclei.

trait -any genetically determined characteristic. See dominant, gene, recessive.

transgenic mice-mice that receive injections of foreign genes during the embryonic stage of development. Their cells then follow the "instructions" of the foreign genes, resulting in the development of a certain trait or characteristic. Transgenic mice can serve as an animal model of a certain disease, telling researchers how genes work in specific cells.

ventricles -cavities within the brain that are filled with cerebrospinal fluid. In HD, tissue loss causes enlargement of the ventricles.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

Posted by Dave at 10:48 AM | Comments (0) | TrackBack

HD Information Resources

For information on other neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute's Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
(800) 352-9424
www.ninds.nih.gov

Private voluntary organizations that provide the public with information on treatment, diagnosis, and services include the following:

Huntington's Disease Society of America
158 West 29th Street
7th Floor
New York, NY 10001-5300
hdsainfo@hdsa.org
http://www.hdsa.org
Tel: 212-242-1968 800-345-HDSA (4372)
Fax: 212-239-3430

Dedicated to finding a cure for Huntington's Disease while providing support and services for those living with HD and their families.

Hereditary Disease Foundation
3960 Broadway
6th Floor
New York, NY 10032
cures@hdfoundation.org
http://www.hdfoundation.org
Tel: 212-928-2121
Fax: 212-928-2172

Non-profit, basic science organization dedicated to the cure of genetic disease. All publicly donated funds are directed toward the support of biomdical research.

Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Reviewed July 1, 2001

Posted by Dave at 10:42 AM | Comments (0) | TrackBack

November 01, 2003

A Dangerous Doctor?

The Rocky Mountain News has done an expose on a secret report conducted on the former chairman of the Neurosurgery Department at University Hospital in Denver. The doctor, Issam Awad, came to hospital with impeccable credentials. He was a former president of the National Congress of Neurological Surgeons, had worked at top-flight neurological centers, was a speaker & author on neurosurgery, and has performed over 3000 neurosurgeries. On paper, just the kind of doctor you would want operating on you.

The report on Dr. Issam Awad was the result of a report done by a committee of five peers, all top doctors. The committee was appointed by the president of the hospital’s medical board to investigate charges by three chief residents who said Awad had injuring patients. In addition, five residents in the Neurosurgery program stated they did not want to work with Awad anymore. During the investigation four senior neurosurgeons at the hospital gave very “harsh judgments of Awad”.

Some excerpts from the article:

“Breeze told the committee that Awad is incompetent clinically and ethically. "I have a very difficult time believing anything he writes in the chart or tells me."…

“Kindt said that the head of the search committee that eventually recommended hiring Awad as chairman of neurosurgery told Kindt to call past and current colleagues of Awad to ask about him. Kindt said he did so and was told that Awad was a poor surgeon and that people "hated" him, the report said.“…

“The panel turned to consultant Robertson for his bottom-line impressions. In a final set of questions, the report said, the committee asked Robertson:

Would he refer a patient to Awad? His answer was no.

Would he hire Awad into a neurosurgical department knowing what he knows about him now? He answered no.

Was Awad’s performance, based on many of the cases reviewed, below the standard of neurosurgical care? He said yes. “

The committee concluded its 80 page report by recommending that the hospital permanently bar Dr. Awad from practicing at that hospital. Four days later the hospital’s medical board reinstated Dr. Awad with full privileges. He’ll continue to teach, perform surgery and collect his $448,000 salary… but he will no longer run the department.

Read the article, there are some who defend Dr. Awad. But I have one question…

Would you want to have any kind of surgery at a hospital that would choose to retain surgeons who’ve had these kinds of complaints?

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