Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
10.3760/cma.j.cn511374-20211206-00967
- Author:
Rong FU
1
;
Man DING
;
Zuneng LU
Author Information
1. Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, Hubei 430060, China. lzn196480@126.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Spinocerebellar Ataxias/pathology*;
Ataxia/genetics*;
Muscle Spasticity/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(1):121-124
- CountryChina
- Language:Chinese
-
Abstract:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare and early-onset neurodegenerative disease caused by variants of the SACS 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.
