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Article

Is the ataxia of Charlevoix-Saguenay a developmental disease?

Medical hypotheses - 1 Sept 2011

Gazulla José, Vela Ana Carmen, Marín Miguel Angel, Pablo Luis, Santorelli Filippo Maria, Benavente Isabel, Modrego Pedro, Tintoré María, Berciano José

Abstract excerpt

The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is considered a neurodegenerative disease caused by mutations in the SACS gene, located on chromosome 13q12.12. It is a syndrome that comprises skeletal, retinal and neurological manifestations, among which feature spasticity, cerebellar ataxia and peripheral neuropathy. Five patients with a molecular diagnosis of ARSACS underwent clinical,...

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Source

Identifiers

PMID: 21665375
DOI: 10.1016/j.mehy.2011.05.011

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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