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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 chromosome 13q11 and identified two ancestral haplotypes. Here we report the cloning of this gene, SACS, which encodes the...

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Source

Identifiers

PMID: 10655055
DOI: 10.1038/72769

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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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 ↗

A novel SACS gene mutation in a Tunisian family.Semantic proximity Read ↗

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.Semantic proximity Read ↗

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

A novel mutation in SACS gene in a family from southern Italy.Semantic proximity Read ↗

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.Semantic proximity Read ↗

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.Semantic proximity Read ↗

Diversity of ARSACS mutations in French-Canadians.Semantic proximity Read ↗

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.Semantic proximity Read ↗

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.Semantic proximity Read ↗

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