Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2014, Vol. 14 ›› Issue (5): 450-454. doi: 10.3969/j.issn.1672-6731.2014.05.017

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Research progress of spinocerebellar ataxia type 1

ZHANG Lin-wei, GU Wei-hong   

  1. Movement Disorder & Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing 100029, China
  • Online:2014-05-25 Published:2014-05-27
  • Contact: GU Wei-hong (Email: jane55.gu@vip.sina.com)
  • Supported by:

    This study was supported by Grant Awarded 2010-2012 from Ministry of Health Foundation of China and Grant Awarded 2012-2015 from Science and Technology Committee of Beijing.

脊髓小脑共济失调1型研究进展

张麟伟, 顾卫红   

  1. 100029 北京,卫生部中日友好医院运动障碍与神经遗传病研究中心
  • 通讯作者: 顾卫红 (Email:jane55.gu@vip.sina.com)
  • 基金资助:

    卫生部部属(管)医院2010-2012 年度临床学科重点项目;2012-2015年度首都临床特色应用研究专项项目

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

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