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  • Title: Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Author: Bouchard JP, Barbeau A, Bouchard R, Bouchard RW.
    Journal: Can J Neurol Sci; 1978 Feb; 5(1):61-9. PubMed ID: 647499.
    Abstract:
    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.
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