Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
付容 1丁曼 1卢祖能 1梁程红 李岭
扫码查看
点击上方二维码区域，可以放大扫码查看
作者信息
1. 武汉大学人民医院神经内科，武汉 430060
折叠
摘要
Charlevoix-Saguenay常染色体隐性痉挛性共济失调(ARSACS)是一种由 SACS基因变异所致的早发罕见的神经变性疾病。 SACS基因位于染色体13q11区，编码sacsin蛋白，后者在运动系统的神经、尤其是小脑浦肯野细胞中高度表达。本文总结了sacsin蛋白的结构和功能异常导致ARSACS的机制，为该病的研究提供参考。 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare and early-onset neurodegenerative disease caused by variants of theSACS gene which maps to chromosome 13q11 and encodes sacsin protein. Sacsin is highly expressed in large motor neurons, in particular cerebellar Purkinje cells. This article has provided a review for the structure and function of sacsin protein and the mechanisms underlying abnormalities of sacsin in ARSACS disease.
Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare and early-onset neurodegenerative disease caused by variants of theSACS gene which maps to chromosome 13q11 and encodes sacsin protein. Sacsin is highly expressed in large motor neurons, in particular cerebellar Purkinje cells. This article has provided a review for the structure and function of sacsin protein and the mechanisms underlying abnormalities of sacsin in ARSACS disease.
关键词
Charlevoix-Saguenay常染色体隐性痉挛性共济失调/SACS基因/Sacsin蛋白
Key words
Autosomal recessive spastic ataxia of Charlevoix-Saguenay/SACS gene/Sacsin protein
万方数据