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Neurology. 2005 Feb 8;64(3):539-41.

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.

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  • 1Department of Neurology, Columbia University College of Physicians & Surgeons, New York, NY 10032, USA


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.

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