苏南地区脊髓小脑共济失调临床和基因诊断及CAG突变分析  

Analysis of clinic feature,genetic diagnosis and gene mutation of SCA in Southern district of Jiangsu

作　　者：俞立强[1] 方琪[1] 何晓辉[2] 王进[2] 秦正红[2] 王达鹏[1] 董万利[1] 

机构地区：[1]苏州大学附属第一医院神经内科,215006 [2]苏州大学医学部衰老与神经疾病重点实验室

出　　处：《江苏医药》2010年第22期2611-2614,共4页Jiangsu Medical Journal

基　　金：国家863重大专项课题(2008AA02Z436)

摘　　要：目的研究苏南地区脊髓小脑共济失调(SCA)的临床表现、影像学及基因诊断,并探讨SCA3的ATXN3基因中CAG重复突变的特征。方法对9个脊髓小脑共济失调家系及1个散发病例进行临床、影像及基因突变总结分析。结果 9个家系共41例作过SCA1、SCA2、SCA3、SCA6、SCA7、SCA17及齿状核红核苍白球路易体萎缩(DRPLA)各亚型(CAG)n三核苷酸重复扩增检测的患者及家系成员中,SCA3有6个家系,患者24例,症状前患者4例;余下的3个家系和1个散发病例,共9例受检者(7例发病)上述SCA 7个亚型基因检测未见异常。结论 SCA3是苏南地区最多见的SCA亚型,其确诊有赖于基因检测;但在此地区也存在其他未知亚型,有待进一步确诊。Objective To investigate the clinical features,MRI,genetic diagnosis of spinocerebellar ataxia（SCA） and discuss the characteristics of CAG repeat mutatin of ATXN3 gene in Southern district of Jiangsu.Methods The clinical data,MR images,mutation data were analyzed in 9 families and 1 case of SCA patient.Results Among the 41 cases of 9 families,there were 6 SCA3 families,24 SCA3 cases,4 presymptomatic patients.The other 3 families and 1 case who had been tested with SCA3,SCA1,SCA2,SCA6,SCA7,SCA17 and DRPLA had no abnormal mutations.Conclusion SCA3 is the most common subtype of SCA in Southern district of Jiangsu.The diagnosis depends on genetic testing.There are other unknown subtypes need to be further confirmed in this region.

关 键 词：脊髓小脑性共济失调 CAG重复突变 

分 类 号：R745[医药卫生—神经病学与精神病学]