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Juvenile Huntington's disease has a life expectancy rate of 10 years after onset of visible symptoms. Most life-threatening complications result from muscle coordination, and to a lesser extent, behavioral changes induced by declining cognitive function. The largest risk is pneumonia, which causes death in one third of those with HD.
Nancy Wexler (born 19 July 1945) [1] FRCP MEASA is an American geneticist and the Higgins Professor of Neuropsychology in the Departments of Neurology and Psychiatry of the Columbia University College of Physicians and Surgeons, best known for her involvement in the discovery of the location of the gene that causes Huntington's disease.
Huntington's disease is a degenerative neurological disorder that is inherited. Degeneration of neuronal cells occurs throughout the brain, especially in the striatum. There is a progressive decline that results in abnormal movements. [31] Statistics show that Huntington's disease may affect 10 per 100,000 people of Western European descent.
Huntington's disease is a hereditary disease that causes defects in behavior, cognition, and uncontrolled rapid, jerky movements. [1] Huntington's disease stems from a defect that consists of an expanded CAG repeat in the huntingtin gene (HTT) located on the short arm p of chromosome 4. [7]
The Journal of Huntington ' s Disease is a quarterly peer-reviewed scientific journal in neuroscience that covers all aspects of Huntington's disease and related disorders. It was established in 2012 and is published by IOS Press. The editors-in-chief are Blair Leavitt (University of British Columbia) and Leslie Thompson .
Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.
No additional life span has been gained, and the patient may even be subject to added anxiety as the patient must live for longer with knowledge of the disease. For example, the genetic disorder Huntington's disease is diagnosed when symptoms appear at around 50, and the person dies at around 65. The typical patient, therefore, lives about 15 ...
Do You Really Want to Know? is a 2012 documentary film directed by John Zaritsky and produced by Kevin Eastwood.Using interviews and dramatic recreations, the film recounts the stories of three families who carry the gene for Huntington's disease, a neurodegenerative illness which is the result of a genetic abnormality, whose symptoms typically appear in mid-life. [1]
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