Cerebellar ataxia and coenzyme Q10 deficiency.
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.
Lamperti
C
C
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Naini
A
A
Hirano
M
M
De Vivo
D C
DC
Bertini
E
E
Servidei
S
S
Valeriani
M
M
Lynch
D
D
Banwell
B
B
Berg
M
M
Dubrovsky
T
T
Chiriboga
C
C
Angelini
C
C
Pegoraro
E
E
DiMauro
S
S
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
D003067:Coenzymes; D014451:Ubiquinone; C024989:coenzyme Q10