Friedreich's Ataxia 1976 — An Overview

Abstract

SUMMARY:The prospective investigation of 50 cases of possible Friedreich's ataxia has permitted the clinical and biochemical delineation 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 β -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.