Cerebellar ataxia and coenzyme Q10 deficiency

被引：140

作者：

Lamperti, C

Naini, A

Hirano, M

De Vivo, DC

Bertini, E

Servidei, S

Valeriani, M

Lynch, D

Banwell, B

Berg, M

Dubrovsky, T

Chiriboga, C

Angelini, C

Pegoraro, E

DiMauro, S

机构：

[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[2] Columbia Univ Coll Phys & Surg, Dept Pediat, New York, NY 10032 USA

[3] Pediat Hosp Bambino Gesu, Rome, Italy

[4] Univ Sacred Heart, Inst Neurol, I-00168 Rome, Italy

[5] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA

[6] Hosp Sick Children, Dept Pediat, Div Neurol, Toronto, ON M5G 1X8, Canada

[7] Univ Rochester, Strong Mem Hosp, Dept Neurol, Rochester, NY 14642 USA

[8] Off Pediat Neurol, Hollywood, FL USA

[9] Univ Padua, Dept Neurol, I-35100 Padua, Italy

来源：

NEUROLOGY | 2003年 / 60卷 / 07期

关键词：

D O I：

10.1212/01.WNL.0000055089.39373.FC

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1206 / 1208

页数：3

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