Progression despite replacement of a myopathic form of coenzyme Q10 defect

被引：65
作者：
Auré, K
Benoist, JF
de Baulny, HO
Romero, NB
Rigal, O
Lombès, A
机构：
[1] Grp Hosp Pitie Salpetriere, INSERM, U582, Inst Myol,Assistance Publ Hop Paris, F-75013 Paris, France
[2] Hop Robert Debre, Serv Biochim A, Assistance Publ Hop Paris, Paris, France
[3] Hop Robert Debre, Serv Malad Metab, Assistance Publ Hop Paris, Paris, France
来源：
NEUROLOGY | 2004年 / 63卷 / 04期
关键词：
D O I：
10.1212/01.WNL.0000134607.76780.B2
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The authors report 7 years of follow-up evaluation of a patient with coenzyme Q(10) (CoQ(10)) deficiency. Initial symptoms of exercise intolerance and hyperlactatemia improved markedly with substitutive treatment. However, CoQ(10) supplementation did not prevent the onset of a cerebellar syndrome. A switch to idebenone treatment resulted in clinical and metabolic worsening, which disappeared with subsequent CoQ(10) treatment. CoQ(10) defects may cause progressive neurologic disease despite supplementation.
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页码：727 / 729
页数：3
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