Sunday, October 11, 2009

Huntington disease (HD)

Huntington's disease, chorea, or disorder (HD), is an incurable neurodegenerative genetic disorder that affects muscle coordination and some cognitive functions, typically becoming noticeable in middle age. It is the most common genetic cause of abnormal involuntary writhing movements called chorea. It is much more common in people of Western Europe descent than in those from Asia or Africa. The disease is caused by a dominant mutation on either of the two copies of a specific gene, located on an autosomal chromosome. Any child of an affected parent has a 50% chance of inheriting the disease. In rare situations where both parents have an affected gene, or either parent has two affected copies, this chance is greatly increased. Physical symptoms of Huntington's disease can begin at any age from infancy to old age, but usually begin between 35 and 44 years of age. On rare occasions, when symptoms begin before about 20 years of age, they progress faster and vary slightly, and the disease is classified asjuvenile, akinetic-rigid or Westphal variant HD.
The Huntingtin gene normally provides the genetic code for a protein that is also called "huntingtin". The mutation of the Huntingtin gene codes for a different form of the protein, whose presence results in gradual damage to specific areas of the brain. The exact way this happens is not fully understood. Genetic testing, which has been possible since the discovery of the mutation, can be performed before the onset of symptoms in the relatives of an affected individual, as an antenatal test, and also on test-tube embryos, raising ethical debates. Genetic counseling has developed to inform and aid individuals considering genetic testing and has become a model for othergenetically dominant diseases.
The exact way HD affects an individual varies and can differ even between members of the same family, but the symptoms progress predictably 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. 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. There is no cure for HD, and full-time care is often required in the later stages of the disease, but there are emerging treatments to relieve some of its symptoms.
Self-help support organizations, first founded in the 1960s and increasing in number, have been working to increase public awareness, to provide support for individuals and their families, and to promote research. These organizations were instrumental in finding the gene in 1993. Since that time there have been important discoveries every few years and understanding of the disease is improving. Current research directions include determining the exact mechanism of the disease, improving 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.


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