脊髓小脑性共济失调的基因研究进展  

Progress about Gene Research of Spinocerebellar Ataxia

作　　者：刘钰鹏[1] 田增民[2] 

机构地区：[1]第二军医大学海军总医院临床医学院神经外科,上海200082 [2]海军总医院神经外科,北京100048

出　　处：《医学综述》2013年第15期2722-2725,共4页Medical Recapitulate

摘　　要：脊髓小脑性共济失调(SCAs)是一类由于遗传因素造成的单基因神经系统退行性疾病,至今已发现了30余种基因亚型,多数是由于致病基因内存在三核苷酸重复片段异常扩增,导致含有多聚谷氨酰胺链的突变蛋白在细胞核内沉积形成核内包涵体。这类疾病临床症状复杂,具有明显的临床变异性和遗传异质性,分子遗传学的研究有助于明确诊断。该文对SCAs的各种亚型、疾病的发病机制和临床表现进行综述。Spinocerebellar ataxia（SCAs） is a group of hereditary neurodegenerative disorders related to single gene caused by genetic factors.More than 30 spinocerebellar ataxia subtypes have been found.The disease is mostly due to abnormal amplification of the genes that cause the memory of CAG repeats,leading to the formation of nuclear inclusions of the mutant protein deposition containing polyglutamine chain.This kind of disease has obvious clinical variability and genetic heterogeneity,and molecular genetics research will contribute to clear diagnosis.Here is to make a review of the various subtypes,the pathogenesis and the clinical manifestations of SCAs.

关 键 词：脊髓小脑性共济失调 基因表达 临床表现 

分 类 号：R441[医药卫生—诊断学]