Article
The heterozygous A53T mutation in the alpha-synuclein gene in a Chinese Han patient with Parkinson disease: case report and literature review.
Journal of neurology - 1 Oct 2016
Xiong Wei-Xi, Sun Yi-Min, Guan Rong-Yuan, Luo Su-Shan, Chen Chen, An Yu, Wang Jian, Wu Jian-Jun
Abstract excerpt
The missense mutation A53T of alpha-synuclein gene (SNCA) was reported to be a rare but definite cause of sporadic and familial Parkinson disease (PD). It seemed to be restricted geographically in Greece and Italy. We aimed to identify the SNCA mutations in a Chinese PD cohort. Ninety-one early onset PD patients or familial PD probands were collected consecutively for the screening of PD-related genes. The...
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