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Neurology 2003;60:1206-1208
© 2003 American Academy of Neurology
Brief Communications

Cerebellar ataxia and coenzyme Q10 deficiency

C. Lamperti, MD, A. Naini, PhD, M. Hirano, MD, D.C. De Vivo, MD, E. Bertini, MD, S. Servidei, MD, M. Valeriani, MD, D. Lynch, MD, B. Banwell, MD, M. Berg, MD, T. Dubrovsky, MD, C. Chiriboga, MD, C. Angelini, MD, E. Pegoraro, MD and S. DiMauro, MD

From the Departments of Neurology (Drs. Lamperti, Naini, Hirano, and DiMauro) and Pediatrics (Drs. De Vivo and Chiriboga), Columbia University College of Physicians and Surgeons, New York, NY; the Pediatric Hospital "Bambino Gesù" (Drs. Bertini and Valeriani), Rome; the Institute of Neurology (Dr. Servidei), Catholic University, Rome, Italy; the Division of Neurology (Dr. Lynch), Children’s Hospital of Philadelphia, PA; the Division of Neurology, Department of Pediatrics (Dr. Banwell), Hospital for Sick Children, Toronto, Ontario, Canada; the Department of Neurology (Dr. Berg), Strong Memorial Hospital, Rochester, NY; the Office of Pediatric Neurology (Dr. Dubrovsky), Hollywood, FL, and the Department of Neurology (Drs. Angelini and Pegoraro), University of Padova, Italy.

Address correspondence and reprint requests to Dr. Salvatore DiMauro, 4-420 College of Physicians & Surgeons, 630 West 168th Street, New York, NY; e-mail, sd12{at}columbia.edu

The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10. Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation.




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