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Papers of the Week


2019 May 15


J Neurol Sci


400

Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors

Briand M-M, Rodrigue X, Lessard I, Mathieu J, Brais B, Côté I, Gagnon C
J Neurol Sci. 2019 May 15; 400:39-41.
PMID: 30901567.

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) diagnosis is based on the presence of three main clinical features: 1) ataxia, 2) pyramidal involvement, and 3) axonal neuropathy. This study aimed to explore, among a cohort of adults with ARSACS, the prevalence of other signs and symptoms than those commonly describe in this disease and compare their prevalence between younger (<40 years) and older (≥40 years) participants.