title: Cerebellar ataxia and coenzyme Q10 deficiency.
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.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA.
authors.forename: C
authors.initials: C
authors.lastname: Lamperti
authors.forename: A
authors.initials: A
authors.lastname: Naini
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: D C
authors.initials: DC
authors.lastname: De Vivo
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: M
authors.initials: M
authors.lastname: Valeriani
authors.forename: D
authors.initials: D
authors.lastname: Lynch
authors.forename: B
authors.initials: B
authors.lastname: Banwell
authors.forename: M
authors.initials: M
authors.lastname: Berg
authors.forename: T
authors.initials: T
authors.lastname: Dubrovsky
authors.forename: C
authors.initials: C
authors.lastname: Chiriboga
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: E
authors.initials: E
authors.lastname: Pegoraro
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000293:Adolescent; D000328:Adult; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D003067:Coenzymes; D002658:Developmental Disabilities / Q000209:etiology; D019587:Dietary Supplements; D018450:Disease Progression; D004576:Electromyography; D004579:Electron Transport; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000201:enzymology; D009123:Muscle Hypotonia / Q000209:etiology; D018482:Muscle, Skeletal / Q000737:chemistry / Q000201:enzymology; D012640:Seizures / Q000209:etiology; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000032:analysis / Q000172:deficiency* / Q000627:therapeutic use
chemical_list: D003067:Coenzymes; D014451:Ubiquinone; C024989:coenzyme Q10