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Article

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

Nature genetics - 1 Feb 2000

Engert J C, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard J P, Mathieu J, Melançon S B, Schalling M, Lander E S, Morgan K, Hudson T J, Richter A

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region of Quebec. We previously mapped the gene responsible for ARSACS to chromoso...

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Source

Identifiers

PMID: 10655055
DOI: 10.1038/72769

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10655055-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.PMID 10655055Read ↗

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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.Semantic proximity Read ↗

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