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Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease [7] that is mostly inherited. [8] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. [9] [1] A general lack of coordination and an unsteady gait often follow. [2]
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, which affects about 30,000 Americans, is a fatal, inherited disorder that causes progressive movement, psychological and cognitive problems. If a parent has it, their ...
In 1950 his wife's three brothers (Paul, Seymour and Jesse) were diagnosed with Huntington's disease. His wife's father Abraham Sabin (1879–1926) had earlier died of this disease. She believed on the basis of what was known about this disease at the time when her father had died that this disease only affected men. [3]
This is the case for Huntington's disease, where the trinucleotide repeat encodes a long stretch of glutamine residues. When the repeat is present in an untranslated region, it could affect the expression of the gene in which the repeat is found (ex. fragile X ) or many genes through a dominant negative effect (ex. myotonic dystrophy ).
The HOPES team surveys the rapidly growing scientific and clinical literature on Huntington's disease. They then present this information in a web resource that reflects the current scientific understanding of HD. The HOPES website provides information about topics including the causes and symptoms of HD, existing drugs and supplements that may ...
The Society comprises 50+ volunteer-led local chapters and affiliates across the country with its headquarters in New York City. Additionally, HDSA hosts more than 200 support groups for people with HD, their families, caregivers and people at-risk, and is a resource on Huntington's Disease for medical professionals and the general public. [1]
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.
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