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Article

A novel SACS gene mutation in a Tunisian family.

Journal of molecular neuroscience : MN - 1 Nov 2009

Bouhlal Yosr, El Euch-Fayeche Ghada, Hentati Fayçal, Amouri Rim

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia. In 2000, the causative gene, SACS, encoding the protein sacsin, was identified in Quebec patients. The open reading frame (ORF) of SACS was initially reported to contain 11,487 bp and to be encoded by a single gigantic exon. Recently, eight additional exons upstream of the original ORF...

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Source

Identifiers

PMID: 19529988
DOI: 10.1007/s12031-009-9212-9

Genes

SACS

Variants

Provenance

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

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A novel SACS gene mutation in a Tunisian family.PMID 19529988Read ↗

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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.Semantic proximity Read ↗

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