Abstract
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.
Publication types
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Multicenter Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Adult
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Cerebellar Ataxia / diagnosis
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Cerebellar Ataxia / drug therapy
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Cerebellar Ataxia / enzymology*
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Cerebellum / pathology
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Child
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Coenzymes
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Developmental Disabilities / etiology
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Dietary Supplements
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Disease Progression
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Electromyography
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Electron Transport
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Female
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Humans
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Magnetic Resonance Imaging
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Male
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Mitochondria / enzymology
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Muscle Hypotonia / etiology
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Muscle, Skeletal / chemistry
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Muscle, Skeletal / enzymology
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Seizures / etiology
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Ubiquinone / analogs & derivatives*
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Ubiquinone / analysis
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Ubiquinone / deficiency*
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Ubiquinone / therapeutic use
Substances
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Coenzymes
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Ubiquinone
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coenzyme Q10