论文部分内容阅读
目的探讨脊髓小脑共济失调7型(SCA7)家系的临床表现及遗传规律。方法收集一临床诊断为SCA7家系的临床资料,分析基因型与表型之间的关系。结果确诊该病例为SCA7家系;其主要特征为视觉障碍、共济失调、眼球运动受限等。结论 ATXN7基因中碱基对CAG异常重复扩增为SCA7的发病原因,且与临床表现有密切关系。
Objective To investigate the clinical manifestations and inheritance of spinocerebellar ataxia type 7 (SCA7) pedigrees. Methods A clinical diagnosis of SCA7 pedigree clinical data collection, analysis of the relationship between genotype and phenotype. The results confirmed the case for the SCA7 pedigree; the main features of visual impairment, ataxia, limited eye movement and so on. Conclusion The abnormal amplification of CAG in ATXN7 gene is the cause of SCA7, which is closely related to clinical manifestations.