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

J Neurol Sci. 2019 May 15:400:39-41. doi: 10.1016/j.jns.2019.03.008. Epub 2019 Mar 12.


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.

Keywords: ARSACS; Adult; Ataxia disorder; Gait disorder; Natural history; Recessive ataxia.

MeSH terms

  • Adolescent
  • Adult
  • Fecal Incontinence / diagnosis
  • Fecal Incontinence / etiology
  • Fecal Incontinence / physiopathology
  • Female
  • Gait Disorders, Neurologic / diagnosis
  • Gait Disorders, Neurologic / etiology
  • Gait Disorders, Neurologic / physiopathology
  • Humans
  • Male
  • Middle Aged
  • Muscle Spasticity / complications
  • Muscle Spasticity / diagnosis*
  • Muscle Spasticity / physiopathology*
  • Spasm / diagnostic imaging
  • Spasm / etiology
  • Spasm / physiopathology
  • Spinocerebellar Ataxias / complications
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / physiopathology
  • Young Adult

Supplementary concepts

  • Spastic ataxia Charlevoix-Saguenay type