迟发性小脑共济失调伴性腺功能减退和肌肉辅酶Q10缺乏症。

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

作者信息

Gironi M, Lamperti C, Nemni R, Moggio M, Comi G, Guerini F R, Ferrante P, Canal N, Naini A, Bresolin N, DiMauro S

机构信息

Department of Neurology, Laboratory of Biology, University of Milan, Italy.

出版信息

Neurology. 2004 Mar 9;62(5):818-20. doi: 10.1212/01.wnl.0000113719.67643.b7.

DOI:10.1212/01.wnl.0000113719.67643.b7

PMID:15007142

Abstract

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.

摘要

两兄弟患有迟发性进行性共济失调、小脑萎缩和与骨骼肌中辅酶Q10（CoQ10）缺乏相关的高促性腺激素性性腺功能减退。两名患者在补充高剂量CoQ10后病情均有改善，这凸显了CoQ10缺乏在小脑共济失调鉴别诊断中的重要性，即使发病较晚。