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- W2069671096 abstract "Huntington disease (HD) is an autosomal dominant disorder characterized by the clinical triad of motor, behavioral, and cognitive abnormalities. The underlying genetic cause of HD is a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene on chromosome 4.1 CAG expansions above 39 account for the vast majority of HD presentations, but CAG expansions in the 36–39 range confer incomplete penetrance with some individuals developing the disease. CAG expansions in the 27–35 range, accounting for perhaps as much as 6% of HTT alleles in the general population,2 are referred to as intermediate alleles (IA)3; this range confers meiotic instability and can expand into the HD range when passed to subsequent generations. It remains controversial whether IA can cause HD despite several recent reports of clinical HD in IA carriers.4" @default.
- W2069671096 created "2016-06-24" @default.
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- W2069671096 date "2013-04-26" @default.
- W2069671096 modified "2023-10-18" @default.
- W2069671096 title "Redefining the genetic risk for Huntington disease" @default.
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- W2069671096 doi "https://doi.org/10.1212/wnl.0b013e318294b49b" @default.
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