Marie-Michèle Briand1, Xavier Rodrigue1, Isabelle Lessard2, Jean Mathieu3, Bernard Brais4, Isabelle Côté3, Cynthia Gagnon5. 1. Institut de réadaptation en déficience physique de Québec, Québec, Canada. 2. Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, Québec, Canada; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires, Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean, Jonquière, Québec, Canada. 3. Groupe de recherche interdisciplinaire sur les maladies neuromusculaires, Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean, Jonquière, Québec, Canada. 4. Institut neurologique de Montréal, Université McGill, Montréal, Québec, Canada. 5. Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, Québec, Canada; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires, Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean, Jonquière, Québec, Canada. Electronic address: cynthia.gagnon4@usherbrooke.ca.
Abstract
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, choreathetosis, 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.
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, choreathetosis, 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.
Authors: Maria Claudia Pensabene; Milena Melis; Laura De Corato; Carla Di Stefano; Giulia Pizzicannella; Mariateresa Mondillo; Andrea Amico; Doriana Tatulli; Roberto Floris Journal: Radiol Case Rep Date: 2020-02-25