Huntington's Disease with Small CAG Repeat Expansions.

Movement disorders : official journal of the Movement Disorder Society(2023)

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摘要
We showed that small CAG expansion carriers had a similar cognitive profile to those with the more common CAG expansions. These individuals may evade molecular diagnosis because of the absence of chorea rather than because of a low penetrance of symptoms. This finding should encourage neurologists to consider Huntington's disease in cognitively impaired elderly patients without typical chorea and anticipate consequences for genetic counseling in their offspring. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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关键词
chorea, cognitive decline, Huntington's disease, reduced penetrance, small expansions
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