AJOUT DE CARACTÉRISTIQUES CLINIQUES AFIN DE MIEUX DÉCRIRE L'ATAXIE SPASTIQUE AUTOSOMALE RÉCESSIVE DE CHARLEVOIX-SAGUENAY (ARSACS)

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.