Cerebellar ataxia and coenzyme Q10 deficiency

C. Lamperti; A. Naini; M. Hirano; D. C. De Vivo; E. Bertini; Serenella Servidei; M. Valeriani; D. Lynch; B. Banwell; M. Berg; T. Dubrovsky; C. Chiriboga; C. Angelini; E. Pegoraro; Salvatore Dimauro

doi:10.1212/01.WNL.0000055089.39373.FC

Cerebellar ataxia and coenzyme Q10 deficiency

C. Lamperti, A. Naini, M. Hirano, D. C. De Vivo, E. Bertini, Serenella Servidei, M. Valeriani, D. Lynch, B. Banwell, M. Berg, T. Dubrovsky, C. Chiriboga, C. Angelini, E. Pegoraro, Salvatore Dimauro

Risultato della ricerca: Contributo in rivista › Articolo in rivista

162 Citazioni (Scopus)

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.

Lingua originale	English
pagine (da-a)	1206-1208
Numero di pagine	3
Rivista	Neurology
Volume	2003
DOI	https://doi.org/10.1212/01.WNL.0000055089.39373.FC
Stato di pubblicazione	Pubblicato - 2003

Keywords

ataxia
coezyme Q10

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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.",

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author = "C. Lamperti and A. Naini and M. Hirano and {De Vivo}, {D. C.} and E. Bertini and Serenella Servidei and M. Valeriani and D. Lynch and B. Banwell and M. Berg and T. Dubrovsky and C. Chiriboga and C. Angelini and E. Pegoraro and Salvatore Dimauro",

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T1 - Cerebellar ataxia and coenzyme Q10 deficiency

AU - Lamperti, C.

AU - Naini, A.

AU - Hirano, M.

AU - De Vivo, D. C.

AU - Bertini, E.

AU - Servidei, Serenella

AU - Valeriani, M.

AU - Lynch, D.

AU - Banwell, B.

AU - Berg, M.

AU - Dubrovsky, T.

AU - Chiriboga, C.

AU - Angelini, C.

AU - Pegoraro, E.

AU - Dimauro, Salvatore

PY - 2003

Y1 - 2003

N2 - 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.

AB - 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.

KW - ataxia

KW - coezyme Q10

KW - ataxia

KW - coezyme Q10

UR - http://hdl.handle.net/10807/115365

U2 - 10.1212/01.WNL.0000055089.39373.FC

DO - 10.1212/01.WNL.0000055089.39373.FC

M3 - Article

SN - 0028-3878

VL - 2003

SP - 1206

EP - 1208

JO - Neurology

JF - Neurology

ER -

Cerebellar ataxia and coenzyme Q10 deficiency

Abstract

Keywords

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