title: Friedreich's ataxia 1976-an overview.
abstract: The prospective investigation of 50 cases of possible Friedreich's ataxia has permitted the clinical and biochemical celineation of the typical disease and an hypothesis on its pathogenesis. A tentative definition of the disorder could read: "Friedreich's ataxia is a progressive degenerative disease always inherited in an autosomal recessive fashion and characterized by a cardiomyopathy and a ganglioneuropathy with dying back phenomenon. It is probably secondary to a defect in the membrane transport of taurine and beta-alanine and/or a defect in the regulation of pyruvate oxidation." The existence of two pathogenetically distinct distinct entities with the same phenotype is a strong possibility.
mesh_terms: D001663:Bilirubin / Q000378:metabolism; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000378:metabolism; D006801:Humans; D007328:Insulin / Q000378:metabolism; D011773:Pyruvates / Q000378:metabolism
chemical_list: D007328:Insulin; D011773:Pyruvates; D001663:Bilirubin