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- W68729540 abstract "Huntington’s disease (HD) is an autosomal dominantly inherited, fatal neurodegenerative disorder, named for George Huntington, the author of the first definitive report of the condition in 1872. It is characterized by the progressive development of involuntary choreiform movements, although neuropsychiatric symptoms are sometimes the earliest and often the most devastating features of HD. These include detrimental emotional disturbances, behavioral and personality changes, and cognitive impairment. Gross pathological changes are restricted to the brain. Degeneration of specific basal ganglia neurons is a hallmark of HD, but dysfunction in multiple central nervous system pathways contributes to the motor and neuropsychiatric phenotype. HD is caused by an abnormal expansion of a trinucleotide repeat in the huntingtin gene. It is a relatively rare disease with highest prevalence rates of 5 to 10 per 100,000 found in Europe and the United States, whereas incidence is extremely low in Japan and Africa. The typical duration of disease before premature death is 15 to 20 years. Age of onset is associated with the size of the trinucleotide expansion and is generally in adulthood, although approx 10% of cases have juvenile onset. There are currently no effective treatments for the disease." @default.
- W68729540 created "2016-06-24" @default.
- W68729540 creator A5057749582 @default.
- W68729540 creator A5085324361 @default.
- W68729540 date "2012-01-01" @default.
- W68729540 modified "2023-09-23" @default.
- W68729540 title "Huntington's disease" @default.
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