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Article

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Orphanet journal of rare diseases - 1 Oct 2022

Tremblay Marjolaine, Girard-Côté Laura, Brais Bernard, Gagnon Cynthia

Abstract excerpt

BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is one of the most prevalent in Europe. OBJECTIVES: The aim of this study is to provide a better understanding of the manifestations and impacts of ARSACS. METHODS: A systematic...

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Identifiers

PMID: 36183078
DOI: 10.1186/s13023-022-02497-1
PMCID: PMC9526980

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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