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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.
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 is a neurodegenerative disease and most common inherited cause of chorea. The condition was formerly called Huntington's chorea but was renamed because of the important non-choreic features including cognitive decline and behavioural change.
The genetic mutation linked to Huntington's has long been known, but scientists haven't understood how people could have the mutation from birth, but not develop any problems until later in life.
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: HDL2 Huntington's disease–like 2: HELLP syndrome: Hemolytic anemia, elevated liver enzymes and low platelet count syndrome HeV Infection Hendra virus infection HF Heart failure: HFA High-functioning autism: HFMD Hand, foot, and mouth disease: HFRS Hemorrhagic fever with renal syndrome: HI Hearing impaired: HiB disease
Hyperkinesia, more specifically chorea, is the hallmark symptom of Huntington's disease, formerly referred to as Huntington's chorea. Appropriately, chorea is derived from the Greek word, khoros, meaning "dance." The extent of the hyperkinesia exhibited in the disease can vary from solely the little finger to the entire body, resembling ...
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