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Article

Six novel SACS mutations expand the autosomal recessive spastic ataxia of Charlevoix-Saguenay spectrum.

Orphanet journal of rare diseases - 1 Apr 2026

Ikenoshita Susumu, Nomura Toshiya, Shimazaki Haruo, Uetani Hiroyuki, Nakahara Keiichi, Okazaki Takahiro, Imamura Michie, Mizutani Hironori, Fudo Aoi, Jo Yuya, Matsubara Soichiro, Higuchi Yujiro, Hirai Toshinori, Takashima Hiroshi, Ueda Mitsuharu

Abstract excerpt

BACKGROUND: The clinical spectrum of autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) in Asian populations remains incompletely defined. We aimed to characterize the clinical, radiological, and genetic features of Japanese patients with ARSACS and to expand the mutational and phenotypic spectrum of this disorder. METHODS: We conducted a retrospective case series of patients diagnosed with ARSACS...

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Identifiers

PMID: 41923236
DOI: 10.1186/s13023-026-04337-y
PMCID: PMC13169537

Genes

SACS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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