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Article

Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.

Muscle & nerve - 1 Jan 2008

García Antonio, Criscuolo Chiara, de Michele Giuseppe, Berciano José

Abstract excerpt

In order to characterize the electrodiagnostic features of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) more fully, we report the clinical and neurophysiological findings in two patients from a Spanish pedigree with a homozygous missense point mutation in the SACS gene. Nerv...

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Source

Identifiers

PMID: 17683082
DOI: 10.1002/mus.20878

Genes

SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17683082-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.PMID 17683082Read ↗

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