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Article

Novel compound heterozygous mutations in sacsin-related ataxia.

Journal of the neurological sciences - 15 Dec 2005

Yamamoto Yoichi, Hiraoka Kotaro, Araki Mutsuko, Nagano Seiichi, Shimazaki Haruo, Takiyama Yoshihisa, Sakoda Sabro

Abstract excerpt

High prevalence of a form of autosomal recessive spastic ataxia with early onset was originally described among French Canadians in the Charlevoix-Saguenay region, in northeastern Quebec. Since the responsible gene (SACS) was identified, mutations in the SACS gene have been described in Tunisia,...

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Source

Identifiers

PMID: 16198375
DOI: 10.1016/j.jns.2005.08.005

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16198375-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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