Ataxia (Familial Cerebellar) With Muscle CoQ10 Deficiency

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Abstract

Coenzyme Q10 (CoQ10 or ubiquinone) is a lipid-soluble molecule with multiple cellular functions including transport of electrons in the mitochondrial respiratory chain. Deficiencies of CoQ10 are generally autosomal recessive, often present with cerebellar ataxia and atrophy, and are important to diagnose as they often respond to oral CoQ10 supplementation.

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Change History. March 2016. C Quinzii and M Hirano changed the order of the authors and updated the sections Definition, History, Pathogenesis and Pathophysiology, Clinical features and Diagnostic and the References.

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