脊髓小脑共济失调3型临床变异型特征及突变分析  

The characteristics of clinical variation and mutation analysis on spinocerebellar ataxia type 3

作　　者：顾卫红[1] 王国相[1] 王康[1] 郝莹[1] 王晓工[1] 杜皓萍[1] 杨斯柳[1] 

机构地区：[1]中日友好医院神经内科,北京100029

出　　处：《中国现代神经疾病杂志》2008年第2期134-138,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：卫生部临床学科重点项目(项目编号:2004-2006)

摘　　要：目的探讨脊髓小脑共济失调3型临床变异型特征。方法应用CEQ8000核酸分析仪对1个表型为变形性肌张力障碍家系和2个表型为痉挛性截瘫家系的SCA3/MJD基因胞嘧啶-腺嘌呤-鸟嘌呤(CAG)重复序列进行基因片段分析。结果基因学检查证实3个家系均为SCA3/MJD基因CAG重复扩增突变致病。结论我国脊髓小脑共济失调3型存在变形性肌张力障碍和痉挛性截瘫的临床变异型。脊髓小脑共济失调3型的多种临床变异类型为调节因素假说提供了进一步的证据,并且提示在临床工作中应注意避免遗漏阳性家系。Objective To investigate the characteristics of clinical variation of spinocerebellar ataxia type 3 （SCA3）. Methods Gene fragment analysis based on CEQ8000 sequencer were applied to analyse the cytosine-adenine-guanine （CAG） repeat of SCA3/MJD gene in 1 torsion dystonia pedigree and 2 spastic paraplegia pedigrees. Results These pedigrees were genetically determined SCA3 by the expended CAG repeat of SCA3/MJD gene. Conclusion SCA3 might include the clinical subtypes as torsion dystonia and spastic paraplegia in China. These findings indicate that the clinical variation of SCA3 might cover a wider spectrum than previously reviewed. The high clinical pleomorphism strongly supports that SCA3 phenotype is modulated by modifier factors. It is suggested to avoid missed diagnosis in positive family.

关 键 词：脊髓小脑变性 张力障碍 痉挛性截瘫 遗传性 基因 显性 染色体 人 

分 类 号：R744[医药卫生—神经病学与精神病学]