Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

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...

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Bibliographic Details
Main Authors: Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais, Cynthia Gagnon
Format: Article
Language:English
Published: BMC 2022-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ataxia
Movement disorders
Patient-reported
Phenotype
Online Access:https://doi.org/10.1186/s13023-022-02497-1

Internet

https://doi.org/10.1186/s13023-022-02497-1

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