脊髓小脑型共济失调的分子生物学研究进展
李学,王泽帅,马建军,徐军
摘要(Abstract)：
脊髓小脑型共济失调是一组包括多种共济失调亚型,具有高度临床和遗传异质性的神经系统退行性疾病,现已有公认的各种分类方法;各亚型的脊髓小脑型共济失调以核苷酸多态重复有关的基因型最为常见,多数是由于致病基因内存在CAG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。
关键词(KeyWords)：
脊髓小脑型共济失调;分子生物学;基因型
基金项目(Foundation): 河南省科技公关项目(200703093)
作者(Author):
李学,王泽帅,马建军,徐军
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