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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 .
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.
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.
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.
Jeffrey Bryan Carroll is an American scientific researcher in the field of Huntington's disease (HD). [1] As a carrier of the abnormal gene that causes HD, [2] he is also a public advocate for families affected by the disease, and co-founder of the HD research news platform HDBuzz. [3]
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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