Article
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
Neurology - 8 Feb 2005
Quinzii C M, Kattah A G, Naini A, Akman H O, Mootha V K, DiMauro S, Hirano M
Abstract excerpt
Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these disorders improve with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene (APTX) mutation that...
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