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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.
Articles summarize and synthesize recent research on HD for a non-technical audience. [2] The website is designed for people of all ages and scientific backgrounds. Material ranges from interactive articles about basic genetics, written for children, to more comprehensive topics in molecular neuroscience , such as the potential for stem cells ...
George Huntington. George Huntington (April 9, 1850 – March 3, 1916) was an American physician who contributed a classic clinical description of the disease that bears his name—Huntington's disease. [1] George Huntington's paper. Huntington described this condition in the first of only two scientific papers he ever wrote.
Huntington's disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat (the mutant allele) from an affected parent. [26] Since the penetrance of the mutation is very high, those who have a mutated copy of the gene will have the disease.
Gusella joined the faculty of Harvard Medical School in 1980, where he began collaborating with Nancy Wexler to study the genetic basis of Huntington's disease.Through linkage analysis of a large Venezuelan population of Huntington's disease kindreds, they mapped the location of the causal gene to the short arm of chromosome 4 in 1983. [4]
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Hereditary Disease Foundation; Humanin; Huntingtin; Huntington Society of Canada; George Huntington; Huntington's Disease Association; Huntington's disease in popular culture; Huntington's Disease Outreach Project for Education at Stanford; Huntington's Disease Society of America; Huntington's disease-like syndrome
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