What is Huntington's Disease?

Huntington’s Disease (HD) is an inherited progressive and fatal neurological disorder caused by an excessively repeated DNA code sequence of cytosine, adenine, and guanine (referred to as the CAG repeat). This abnormal code sequence is found in the gene that is responsible for the creation of the huntingtin protein, and since the sequence is abnormal the huntingtin protein that is produced is also abnormal. The mechanisms of brain cell death that are triggered by the abnormal huntingtin protein are not yet understood. We know of at least 200 things that appear to be negatively impacted. The more common of these include abnormal aggregation of the mutant huntingtin protein, oxidative stress, mitochondrial alterations, apoptosis (cell death), bioenergetic defects, and excitoxicity.

The result of HD is that sections of the brain of the affected person will slowly undergo brain damage as the cells in the brain die off. MRI scans will reveal how those sections of the brain that are targeted by HD have severely shrunk. This brain damage results in affected person slowly losing control over most of their motor skills. In many there is also an impact on their judgment and their emotional stability which may even lead to dementia.

Each child with a parent that has the HD gene has a 50% chance of inheriting the disease. There is no known cure for HD, and there are no clinically proven treatments. However, there are many promising treatments that are in, or about to enter clinical trials. We also believe that exercise delays the progression of HD and that supplements which improve the condition of the heart and/or the brain (such as CoQ10, creatine, blueberries, fish oil, etc) may also help.

Huntington's Disease: Hope Through Research

Published by the National Institute of Neurological Disorders and Stroke.

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The Basics of Huntington's Disease

Published by Stanford University at the "Hopes" site.

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