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Article

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

Parkinsonism & related disorders - 1 Jul 2011

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

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. Following the description of the first patients in 1978, the gene responsible has been mapped and identified. It was also shown that the disease occurred worldwide with more than 70 mutations and diverse phenotypes....

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Source

Identifiers

PMID: 21450511
DOI: 10.1016/j.parkreldis.2011.03.005

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.

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.PMID 21450511Read ↗

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

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