亚洲人群中脆性X前突变等位基因在SCA、ET和帕金森综合征患者中的表现

摘要

cqvip:Among 367 subjects, the authors analyzed 167 patients with essential tremor, sporadic progressive cerebellar ataxia, multiple system atrophy, and atypical parkinso nism and 200 healthy control subjects for FMR1 premutation alleles. None of the subjects carried alleles within the premutation range. These findings suggest that in the absence of other supportive clinical or imaging features, the cost effectiveness of routine fragile X tremor/ataxia syndrome screening in this Asian cohort with movement disorders was low.