Huntington's disease
hideHuntington's disease, also known as Huntington's chorea, sometimes abbreviated as HD, is a neurodegenerative genetic disorder that is the most common genetic cause of repetitive abnormal movements called chorea. It was named after American physician George Huntington, who published one of the earliest descriptions of the disorder in 1872. The prevalence of HD varies across the world from one person per million in populations of Asian and African descent, up to seventy people per million in populations of Western European inheritance. Smaller regions within these areas may have a much higher prevalence than the general population. Symptoms can begin at any age, with physical symptoms being noticed first, most commonly this occurs between 35 and 44 years of age. Less commonly, onset is before the age of 20, and the condition, classified as juvenile HD (also known as akinetic-rigid HD or Westphal variant HD), progresses faster with slightly different symptoms. Genetic testing for HD was made possible in 1993 with the discovery of a single causal gene for the disease, the first non-sex-linked dominant disease gene to be found. Consequently, genetic counseling for HD was developed and became a model for other genetically dominant disorders. The genetic test can be performed before the onset of symptoms, at any age—even pre-birth, which has raised various ethical issues and heated debates.
Because it is inherited dominantly, an affected parent has a 50% chance of passing it to each child and the disease runs strongly in families, often affecting several generations. The exact way HD affects an individual varies, even between family members, but its symptoms progress similarly for most individuals. The earliest symptoms are a general lack of coordination and an unsteady gait. As the disease advances uncoordinated, jerky body movements become more apparent, along with a decline in mental abilities and behavioral and psychiatric problems. Physical abilities are gradually impeded until coordinated movement becomes very difficult, and mental abilities generally decline into dementia, often requiring full-time care in the later stages of the disease. Although the disorder itself is not fatal, complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy to around twenty years after symptoms begin.
The mechanism of the disease is not fully understood, but a number of factors have been identified. A mutation in the Huntingtin gene causes the production of an abnormal form of the protein huntingtin, which in turn produces cellular and anatomical changes in the brain. There is no cure for HD, although there are treatments to relieve some of its symptoms.
Since the late 1960s and the formation of the Hereditary Disease Foundation by Dr. Milton Wexler and the Committee to Combat Huntington's Disease by Marjorie Guthrie, lay organizations have increased in number, playing a key factor in stimulating research, increasing public awareness and providing support for families in many countries. Research directions include determining the exact mechanism of the disease, improvement of animal models to expedite research, clinical trials of pharmaceuticals to treat symptoms or slow the progression of the disease, and studying procedures such as stem cell therapy with the goal of repairing damage caused by the disease.
For more information about Huntington's disease, read the full article at
Wikipedia.
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News tagged with huntington disease
Mystery solved: Tiny protein-activator responsible for brain cell damage in Huntington disease
Jun 04, 2009 |
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Johns Hopkins brain scientists have figured out why a faulty protein accumulates in cells everywhere in the bodies of people with Huntington's disease (HD), but only kills cells in the part of the brain that controls movement, ...
New hope for treatment of neurodegenerative disorder
Apr 20, 2009 |
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Researchers from the University of Southern California have taken an important first step toward protecting against Huntington disease using gene therapy.
Researchers Link Huntington Depression to Genetics
Apr 17, 2009 |
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(PhysOrg.com) -- The depression experienced by people with Huntington disease (HD) may have nothing to do with the emotional stress of knowing you have a devastating, incurable disorder, according to a University of British ...
Huntington disease begins to take hold early on
Apr 16, 2009 |
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A global analysis of brain proteins over a 10-week period in a mouse model of Huntington Disease has revealed some new insights into this complex neurodegenerative disorder. For example, profound changes (comparable to those ...
Search results for huntington disease
Mental and physical exercise delays dementia in fatal genetic disease
Jan 24, 2008 |
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Scientists at Melbourne’s Howard Florey Institute have discovered that mental and physical stimulation delays the onset of dementia in the fatal genetic disease, Huntington's disease.
Physical activity delays onset of Huntington's in mouse model
Apr 01, 2008 |
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The simple act of running in an exercise wheel delays the onset of some symptoms of Huntington’s disease in a mouse model of the fatal human disorder according to research published in the open-access journal BMC Neuroscience. These ...
Huntington's disease problem start early
Jan 09, 2008 |
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The damaging effects of the mutated protein involved in Huntington’s disease take place earlier in cell life than previously believed, said researchers from Baylor College of Medicine in Houston in a report that appears in ...
Study links faulty DNA repair to Huntington's disease onset
Apr 23, 2007 |
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Huntington’s disease, an inherited neurodegenerative disorder that affects roughly 30,000 Americans, is incurable and fatal. But a new discovery about how cells repair their DNA points to a possible way to ...
Biologists link Huntington's disease to health benefits in young
Sep 25, 2007 |
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For years researchers in neurology have believed that people with Huntington’s disease have more children than the general population because of behavioral changes associated with the disease that lead to sexual promiscuity.
Study suggests new treatments for Huntington's disease
Jan 09, 2008 |
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Working with fruit flies, researchers have discovered a new mechanism by which the abnormal protein in Huntington’s disease causes neurodegeneration. They have also manipulated the flies to successfully suppress that neurodegeneration, ...
Researchers discover zip codes for protein
Jan 29, 2007 |
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McMaster scientists are very close to defining small molecule drugs that should be able to redirect the huntingtin protein from accumulating in the wrong place within brain cells, which could potentially translate to a therapy ...
Repeating genes
Biology /
Nov 26, 2007 |
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Huntington’s disease is a genetic time bomb: Programmed in the genes, it appears at a predictable age in adulthood, causing a progressive decline in mental and neurological function and finally death. There is, to date, no ...
A new molecular zip code, and a new drug target for Huntington's disease
Aug 20, 2007 |
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McMaster University researchers have first insight into how Huntington's disease (HD) is triggered. The research will be published online in the British Journal, Human Molecular Genetics, on Monday, August 20.
Stem cells show promise for treating Huntington's disease
Sep 25, 2007 |
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Paying close attention to how a canary learns a new song has helped scientists open a new avenue of research against Huntington’s disease – a fatal disorder for which there is currently no cure or even a treatment to slow ...
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