摘要： 脊髓小脑共济失调1 型（SCA1）是一种常染色体显性遗传性神经变性疾病，其发病机制至今尚未阐明，通过动物模型研究发现蛋白磷酸化修饰、分子伴侣、泛素-蛋白酶体系统及特异性蛋白激酶信号转导通路与其发病有关。本文拟对SCA1 临床和病理学特征、发病机制、动物模型及治疗等方面进行概述。

关键词: 脊髓小脑共济失调, 综述

Abstract: Spinocerebellar ataxia type 1 (SCA1) is a kind of autosomal dominant genetic neurodegenerative disorder. To date, the pathogenesis of SCA1 remains unclear. Studies in numerous SCA1 experimental models, including transgenic mice, transgenic drosophila and induced pluripotent stem cells, have shown that phosphorylation of S776 in mutant ataxin-1, molecular chaperones, ubiquitin-proteasome system and down-regulation of several components of RAS-MAPK-MSK1 pathway may involve in the pathogenesis of SCA1. In this review, the clinical and pathological features of SCA1, and the latest advances of pathogenesis, model systems and therapeutic exploration will be briefly summarized.

Key words: Spinocerebellar ataxias, Review