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NEUROLOGY 2005;64:539-541
© 2005 American Academy of Neurology
Brief Communications

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

C. M. Quinzii, MD, A. G. Kattah, BS, A. Naini, PhD, H. O. Akman, PhD, V. K. Mootha, MD, S. DiMauro, MD and M. Hirano, MD

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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