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[Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2020

Rudenskaya G E, Kadnikova V A, Ryzhkova O P

Abstract excerpt

Spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare autosomal recessive neurodegenerative disease related to SACS gene and characterized by cerebellar, pyramidal and some other signs. The disease was delineated in Quebec, where it cumulates due to founder effect and has similar phenotype with very early onset. ARSACS in other populations is more variable. The first Russian case of ARSACS in a 37-year-old...

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PMID: 32307416
DOI: 10.17116/jnevro202012002185

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