脊髓小脑共济失调7型一家系的临床特征分析

发布时间：2018-06-02 12:37

  本文选题：脊髓小脑共济失调型 + CAG异常突变　； 参考：《广东医学》2017年12期

【摘要】：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。
[Abstract]:Objective to investigate the clinical and genetic characteristics of spinal cerebellar ataxia type 7 (SCA 7) pedigree. Methods the clinical data of a SCA7 family were collected and the relationship between genotype and phenotype was analyzed. Results this case was confirmed as SCA7 pedigree with the main features of visual impairment, ataxia, limited eye movement and so on. Conclusion the abnormal repeat amplification of base pair CAG in ATXN7 gene is the cause of SCA7, and it is closely related to clinical manifestation.
【作者单位】： 安徽理工大学医学院生殖与遗传教研室;南京医科大学第一附属医院泌尿外科;上海交通大学附属第一人民医院眼科;
【基金】：国家级大学生创新创业训练计划项目(编号:201510361091)
【分类号】：R744.7
，

本文编号：1968789