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

[en] Background and purpose: 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. Methods: A clinical interview based on a standardized questionnaire was conducted. It included the following items: memory and concentration problems, hearing impairment, epilepsy, spasms, horeathetosis, neuropathic pain, cramps and fecal incontinence. Results: A total of 43 participants were interviewed, with a mean age of 38.9 years and 51.2% were men. Spasms (55.8%), cramps (53.5%), and concentration problems (39.5%) were the most frequent manifestations. Except for choreathetosis, which was present in only one participant, all other signs and symptoms were present in 9.3% to 29.3% of participants. Conclusions: People with ARSACS may experience many other clinical manifestations than the most commonly described. This study is a preliminary step toward the development of a comprehensive evidence-based clinical care guideline for this population.

Research Center/Unit :

Groupe de recherche interdisciplinaire sur les maladies neuromusculaires

Disciplines :

Neurology

Author, co-author :

Briand, Marie-Michèle ; Université Laval > Physiatrie > 2013-2018

Rodrigue, Xavier; Institut de Réadaptation en Déficience Physique de Québec > Physiatrie

Lessard, Isabelle; Université de Sherbrooke > Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé > Faculté de médecine et des sciences de la santé

Mathieu, Jean; Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean > Groupe de recherche interdisciplinaire sur les maladies neuromusculaires,

Brais, Bernard; McGill University - McGill > Institut neurologique de Montréal

Côté, Isabelle; Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean > Groupe de recherche interdisciplinaire sur les maladies neuromusculaires,

Gagnon, Cynthia; Université de Sherbrooke > Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé > Faculté de médecine et des sciences de la santé

Language :

English

Title :

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

Alternative titles :

[fr] Ajout de caractéristiques cliniques afin de mieux décrire l'ataxie spastique autosomale récessive de Charlevoix-Saguenay (ARSACS)

Publication date :

2019

Journal title :

Journal of the Neurological Sciences

ISSN :

0022-510X

Publisher :

Elsevier, Netherlands

Volume :

400

Pages :

39-41

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

https://doi.org/10.1016/j.jns.2019.03.008

Funders :

IRSC - Instituts de Recherche en Santé du Canada
Fondation de l'Ataxie Charlevoix-Saguenay
FRQS - Fonds de Recherche du Québec - Santé

Available on ORBi :

since 21 May 2019

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