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Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

From the Department of Neurology (Drs. Quinzii, Naini, Akman, DiMauro, and Hirano, A.G. Kattah), Columbia University, College of Physicians & Surgeons, New York, NY; and Whitehead Institute/MIT Center for Genome Research (Dr. Mootha), Cambridge, MA.

Address correspondence and reprint requests to Dr. Michio Hirano, Columbia University College of Physicians & Surgeons, 630 West 168th Street, P&S 4-443, New York, NY 10032; e-mail: mh29{at}columbia.edu

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.

Supported by Telethon-Italy (Fellowship No. GFP03009), NIH grants (P01NS11766 and R01HD37529 to M.H.), and a Muscular Dystrophy Association grant.

Received June 15, 2004. Accepted in final form October 1, 2004.

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