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Article

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.

Internal medicine (Tokyo, Japan) - 15 Dec 2021

Aida Izumi, Ozawa Tetsuo, Fujinaka Hidehiko, Goto Kiyoe, Ohta Kentaro, Nakajima Takashi

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare progressive neurodegenerative disease caused by either homozygous or compound heterozygous mutations in the SACS gene. The original ARSACS cases found in Quebec showed very homogenous phenotypes characterized by cerebellar ataxia, spasticity, and polyneuropathy. However, many cases with atypical phenotypes have been found in other...

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Identifiers

PMID: 34121011
DOI: 10.2169/internalmedicine.7401-21
PMCID: PMC8758457

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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