Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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.
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics; D002648:Child; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity; D009759:Nystagmus, Pathologic; D011792:Quebec; D013064:Speech Disorders; D013577:Syndrome