Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family

Arq Neuropsiquiatr. 2011;69(2B):288-91. doi: 10.1590/s0004-282x2011000300004.

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amitriptyline / analogs & derivatives
  • Amitriptyline / therapeutic use
  • Baclofen / therapeutic use
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle Relaxants, Central / therapeutic use
  • Muscle Spasticity / diagnosis*
  • Muscle Spasticity / drug therapy
  • Pedigree
  • Spinocerebellar Ataxias / congenital*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / drug therapy

Substances

  • Muscle Relaxants, Central
  • Amitriptyline
  • cyclobenzaprine
  • Baclofen

Supplementary concepts

  • Spastic ataxia Charlevoix-Saguenay type