[Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay].

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.

• Authors: Rong Fu, Man Ding, Zuneng Lu
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 40 Issue 1 Pg. 121-124 (Jan 10 2023) ISSN: 1003-9406 [Print] China
• PMID: 36585015 (Publication Type: English Abstract, Journal Article)

Topics

• Humans
• Spinocerebellar Ataxias (genetics, pathology)
• Ataxia (genetics)
• Muscle Spasticity (genetics)