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From the Department of Neurology (Drs. Musumeci, Naini, Shanske, De Vivo, Hirano, and DiMauro), Columbia University College of Physicians and Surgeons, New York, NY; Department of Pediatrics (Dr. Slonim and N. Skavin), North Shore University Hospital, Manhasset, NY; Department of Pediatrics (Drs. Krawiecki and Weissman), Emory University, Atlanta, GA; Children’s Hospital (Dr. Tsao), Columbus, OH; and Department of Neurology (Dr. Mendell), Ohio State University, Columbus.
Address correspondence and reprint requests to Dr. Salvatore DiMauro, 4-420 College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032; e-mail: sd12{at}columbia.edu
OBJECTIVE: To describe a clinical syndrome of cerebellar ataxia associated with muscle coenzyme Q10 (CoQ10) deficiency.
BACKGROUND: Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures, ataxia, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy.
METHODS: Having found decreased CoQ10 levels in muscle from a patient with unclassified familial cerebellar ataxia, the authors measured CoQ10 in muscle biopsies from other patients in whom cerebellar ataxia could not be attributed to known genetic causes.
RESULTS: The authors found muscle CoQ10 deficiency (26 to 35% of normal) in six patients with cerebellar ataxia, pyramidal signs, and seizures. All six patients responded to CoQ10 supplementation; strength increased, ataxia improved, and seizures became less frequent.
CONCLUSIONS: Primary CoQ10 deficiency is a potentially important cause of familial ataxia and should be considered in the differential diagnosis of this condition because CoQ10 administration seems to improve the clinical picture.
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