Huntington Disease - History, Symptoms, Genetic Defect Responsible For Disease, The Quest For The Huntington Disease Gene
chorea related
Huntington disease is a rare, incurable genetic disease that results in the progressive degeneration of both physical and mental abilities. Huntington disease was formly known as Huntington chorea since the most obvious symptoms involve uncontrollable body movements known as chorea. As the disease progresses, its symptoms worsen and patients eventually die of respiratory failure or complications related to the neurodegenerative progression of the disease. Huntington disease is a late onset disorder, where affected individuals usually become symptomatic after 40 years of age. A genetic test for the disease is available, and its use brings to the forefront ethical and social issues related to the clinical diagnosis, particularly in the absence of a cure.
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The symptoms in Huntington disease begin with noticeable behavioral changes including aggression, paranoia, and irritability. Affected individuals may seem restless, with tapping feet or odd twitches. Patients begin to suffer from impaired judgment and an inability to be organized. They become forgetful and their I.Q. declines, coinciding with the deterioration of the brain. Emotionally, they may …
In 1993, scientists discovered the genetic defect that causes Huntington disease. A gene located on the chromosome 4 normally contains a sequence of three nucleotide bases (the alphabet of the genetic code) that repeats several times. The sequence is cytosine, adenine, and guanine, or CAG, which codes for the amino acid glutamine that is a building block for protein synthesis. In Huntington diseas…
The quest for the Huntington disease gene was made possible by a new era in medicine and biology. The researcher who found the first genetic marker for the disease used a novel scientific approach. Much of the credit for the discovery of the gene belongs to Nancy Wexler, a American clinical psychologist who organized and championed the gene hunt with unflagging enthusiasm, in part due to the fact …
In 1972, Wexler learned of several large, interrelated families affected with Huntington disease who lived in small villages along Lake Maracaibo in Venezuela. Wexler realized that this was a unique and valuable resource due to the large family pedigree. The larger the family tree, the easier it is to find genes by linking their location on the chromosome to specific DNA markers within the genome.…
The genetic test for Huntington disease raises profound ethical questions. It offers people who are at risk the opportunity to know whether they inherited the gene. Yet many people at risk choose not to be tested. Currently, no treatment existed to cure Huntington disease or even to delay the onset of the disease. Given this reality, many people would rather live with uncertainty than take the cha…
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