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Article

[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].

Revue neurologique - 1 Apr 2008

Anheim M, Chaigne D, Fleury M, Santorelli F M, De Sèze J, Durr A, Brice A, Koenig M, Tranchant C

Abstract excerpt

The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a cerebellar ataxia autosomal recessively inherited characterized by an ataxic and pyramidal syndrome usually occurring near two years of age. The spastic paraparesis progressively worsens and becomes the prominent sign. Sensorial and motor axonal peripheral neuropathy is frequently reported as well as prominent retinal myelinated fibers on...

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Source

Identifiers

PMID: 18439928
DOI: 10.1016/j.neurol.2008.02.001

Genes

SACS

Variants

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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[Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature].PMID 18439928Read ↗

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