Cerebellar ataxia and coenzyme Q10 deficiency

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Pages (from-to)	1206-1208
Number of pages	3
Journal	Neurology
Volume	60
Issue number	7
DOIs	https://doi.org/10.1212/01.WNL.0000055089.39373.FC
State	Published - Apr 8 2003
Externally published	Yes

ASJC Scopus subject areas

Clinical Neurology

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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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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, S.

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 - 2003/4/8

Y1 - 2003/4/8

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.

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SN - 0028-3878

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SP - 1206

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JO - Neurology

JF - Neurology

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Cerebellar ataxia and coenzyme Q10 deficiency

Abstract

ASJC Scopus subject areas

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