Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
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- 8 February 2005
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 64 (3) , 539-541
- https://doi.org/10.1212/01.wnl.0000150588.75281.58
Abstract
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 causes ataxia oculomotor apraxia (AOA1 [MIM606350]). The authors’ observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1.Keywords
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