2022
DOI: 10.1186/s13023-022-02497-1
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Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

Abstract: 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 sys… Show more

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Cited by 5 publications
(2 citation statements)
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“…Because of the high prevalence of ARSACS in the area where the project took place, the project was mainly conducted with ARSACS as a "model ataxia" for PRAIS development. Prior to the data collection, a systematic review of the literature was performed to identify all the documented manifestations and impacts of ARSACS [23].…”
Section: Methodsmentioning
confidence: 99%
“…Because of the high prevalence of ARSACS in the area where the project took place, the project was mainly conducted with ARSACS as a "model ataxia" for PRAIS development. Prior to the data collection, a systematic review of the literature was performed to identify all the documented manifestations and impacts of ARSACS [23].…”
Section: Methodsmentioning
confidence: 99%
“…1 Initially described as a progressive neurologic disorder originating in Québec, Canada, with a prevalence of 1 in 1932 in the Charlevoix and Saguenay-Lac-St-Jean regions, autosomal recessive spastic ataxia of Charlevoix-Saguenay belongs to a group of rare inherited disorders, autosomal recessive cerebellar ataxias, with the most common being Friedrich ataxia. 2 A mutation of the SACS gene, which encodes the protein sacsin on chromosome 13q12, results in the disorder and can be identified with genetic testing. 3 Two mutations in the SACS gene were originally linked to autosomal recessive spastic ataxia of Charlevoix-Saguenay in Québec; today, more than 200 mutations are linked to the disorder around the globe.…”
Section: Introductionmentioning
confidence: 99%