脊髓小脑性共济失调1例分析并文献复习

A case study of spinocerebellar ataxia and literature review

目的:讨论1例脊髓小脑性共济失调患者的临床表现及家族遗传情况。方法:对1例脊髓小脑性共济失调患者的病史资料进行分析,总结临床表现及遗传情况。结果:脊髓小脑性共济失调以共济失调为主要临床表现,经过基因测序发现,主要为CAG的重复顺序扩增所致。结论:脊髓小脑性共济失调是一种常染色体显性遗传疾病,共济失调为其主要临床表现。

Objective：The objective is to study the clinical features and familial inheritance of a patient with SCA . Methods：Analyze the history date of a patient with SCA, then conclude the clinical features and the condition of familial inheritance.Results：The main clinical features of SCA is ataxia.h resutes from the repeat amplification of the gene ＂CAG＂ by gene sequencing. Conclusion：SCA is a kind of disease of autosomal dominant inheritance.The main clinical features of SCA is ataxia.