Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Can J Neurol Sci. 1978 Feb;5(1):61-9.


A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum beta-lipoproteins and HDL apoproteins. These features are similar to those found in typical Friedreich's ataxia.

MeSH terms

  • Adolescent
  • Adult
  • Ataxia* / diagnosis
  • Ataxia* / genetics
  • Child
  • Female
  • Friedreich Ataxia / genetics
  • Humans
  • Male
  • Middle Aged
  • Muscle Spasticity
  • Nystagmus, Pathologic
  • Quebec
  • Speech Disorders
  • Syndrome