Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

被引：53

作者：

Gironi, M

Lamperti, C

Nemni, R

Moggio, M

Comi, G

Guerini, FR

Ferrante, P

Canal, N

Naini, A

Bresolin, N

DiMauro, S

机构：

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

[2] Univ Milan, Dept Preclin Sci, Don C Gnocchi Fdn IRCCS, I-20122 Milan, Italy

[3] Univ Milan, Biol Lab, I-20122 Milan, Italy

[4] Univ Milan, Dept Neurol, I-20122 Milan, Italy

[5] Univ Milan, Ctr Dino Ferrari,IRCCS, Ospec Maggiore Milano, Unita Operat Neurol, I-20122 Milan, Italy

来源：

NEUROLOGY | 2004年 / 62卷 / 05期

关键词：

D O I：

10.1212/01.WNL.0000113719.67643.B7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Two brothers had late-onset progressive ataxia, cerebellar atrophy, and hypergonadotropic hypogonadism associated with coenzyme Q10 (CoQ10) deficiency in skeletal muscle. Both patients improved on high-dose CoQ10 supplementation, stressing the importance of CoQ10 deficiency in the differential diagnosis of cerebellar ataxia, even when onset is late.

引用

页码：818 / 820

页数：3

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