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Article

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

Arquivos de neuro-psiquiatria - 1 Jun 2017

Burguêz Daniela, Oliveira Camila Maria de, Rockenbach Marcio Aloísio Bezerra Cavalcanti, Fussiger Helena, Vedolin Leonardo Modesti, Winckler Pablo Brea, Maestri Marcelo Krieger, Finkelsztejn Alessandro, Santorelli Filippo Maria, Jardim Laura Bannach, Saute Jonas Alex Morales

Abstract excerpt

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors...

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Identifiers

PMID: 28658401
DOI: 10.1590/0004-282X20170044

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SACS

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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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