Huntington's Disease
Huntington's disease (HD) is a rare inherited neurological disorder affecting up to 8 people per 100,000. It takes its name from the Ohio physician George Huntington who described it precisely in 1872 in his first medical paper. HD has been heavily researched in the last few decades and it is one of the first inherited genetic disorders for which an accurate test can be performed.
HD is caused by a trinucleotide repeat expansion in the Huntingtin (Htt) gene; and is one of several polyglutamine diseases. This expansion produces an altered form of the Htt protein, mutant Huntingtin (mHtt), which results in neuronal cell death in select areas of the brain.
HD's most obvious symptoms are abnormal body movements called chorea and a lack of coordination, but it also affects a number of mental abilities and some aspects of personality. These physical symptoms commonly become noticeable in a person's forties, but can occur at any age. If the age of onset is below 20 years then it is known as Juvenile HD. Being a genetic disorder, there is currently no cure, but the symptoms are managed with medication and appropriate care.
Although there is no sudden loss of abilities or exhibition of symptoms, there is a progressive decline. Physical signs are usually the first noticed, but it is unknown how long before this the cognitive and psychiatric deficits manifest. Physical symptoms are almost always visible, cognitive symptoms are exhibited differently from person to person, and psychiatric problems may not be evident. Degeneration of neuronal cells, especially in the frontal lobes, the basal ganglia, and caudate nucleus occurs. There is also astrogliosis and loss of medium spiny neurons. This results in the selective degeneration of the indirect pathway of the basal ganglia, via the lateral pallidum and the subthalamic nucleus coupled pacemaker system.
There is no treatment to fully stop the progression of the disease, but symptoms can be reduced or alleviated through the use of medication and care methods.
...More at Wikipedia
Related Links:
Huntington's Disease
Questions recently asked by other users
Latest Huntingtons Disease News From Medical News Today.
- New Clue Emerges For Cellular Damage In Huntington's Disease
- Raptor Pharmaceuticals To Collaborate With Centre Hospitalier Universitaire D'Angers For Phase II Clinical Trial In Huntington's Disease
- 2008 Horwitz Prize Awarded To Arthur Horwich & Ulrich Hartl For Cellular Protein Folding
- Antioxidants Could Help Huntington's Disease Sufferers
- Structure Of Important Neurological Receptor Defined By Scripps Research Scientists
- Compounds That Prevent Nerve Damage Discovered By Duke Team
- Repligen Announces Publication Of Positive Results With Proprietary HDAC Inhibitor In Huntington's Disease Model
- Pfizer And Medivation Agreement To Co-Develop And Market Dimebon For Alzheimer's And Huntington's Diseases Treatment
- News Tips From The Journal Of Neuroscience
- FDA Approves New Huntington's Drug
- Statement On FDA's Approval Of XENAZINE(R) For The Treatment Of Chorea Associated With Huntington's Disease
