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  • Title: [Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay].
    Author: Fu R, Ding M, Lu Z.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan 10; 40(1):121-124. PubMed ID: 36585015.
    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.
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