Article
SCA2 family presenting as typical Parkinson's disease: 34 year follow up.
Parkinsonism & related disorders - 1 Jul 2017
Kim Young Eun, Jeon Beomseok, Farrer Matthew J, Scott Erika, Guella Ilaria, Park Sung Sup, Kim Jong Min, Park Hye Young, Kim Aryun, Son Young Don, Cho Zang Hee
Abstract excerpt
OBJECTIVE: We describe a Korean family in SCA2 with long-duration levodopa-responsive parkinsonism without cerebellar ataxia. METHODS: Clinical evaluation, genetic testing, and extensive imaging studies were done. RESULTS: All family members showed a typical Parkinson's disease phenotype without cerebellar ataxia for a long disease duration (up to 34 years). Genetic testing showed 40 CAG repeats and 4 CAA...
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