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  

Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort

作　　者：Tan E.K. Zhao Y. Puong K.Y. 姚庆和 

机构地区：[1]Department of Neurology, Singapore General Hospital, Outram Road, Singapore 169608, Singapore Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第1期42-43,共2页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：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.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.

关 键 词：帕金森综合征 ET SCA 前突变 亚洲人群 特发性震颤 共济失调综合征 散发型 运动障碍 影像学 

分 类 号：R742.5[医药卫生—神经病学与精神病学]