Cerebellar ataxia with coenzyme Q10 deficiency:: Diagnosis and follow-up after coenzyme Q10 supplementation
Cerebellar ataxia with coenzyme Q10 deficiency:: Diagnosis and follow-up after coenzyme Q10 supplementation
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DOI：
10.1016/j.jns.2006.01.021
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发表时间：
2006-07-15
影响因子：
4.4
通讯作者：
Pineda, M
中科院分区：
文献类型：
--
作者：
Artuch, R;Brea-Calvo, G;Pineda, M
我们的目的是报告一例与辅酶Q（10）（CoQ）缺乏相关的小脑共济失调新病例、这种缺乏引起的生化检查结果以及对CoQ补充剂的反应。患者：一名12岁女孩，出现共济失调和小脑萎缩。生化研究：采用高效液相色谱-电化学检测法和线粒体呼吸链（MRC）法测定肌肉中辅酶Q（10）用分光光度法测定酶活性。结果：线粒体呼吸链酶分析显示复合物I+III和复合物II+III活性降低。肌肉中的辅酶Q浓度降低（56 nmol/g蛋白质：参考值：157-488 nmol/g蛋白质）。在患者中观察到放射性标记的4-羟基[U-C-14]苯甲酸掺入减少（相对于中位对照值的掺入为19%）。经过16个月的辅酶Q补充，病人现在能够独立行走和小脑的迹象已经消失。结论：小脑共济失调与辅酶Q缺乏症在我们的情况下，可能会分配在transrenylation途径或在代谢步骤后缩合的4-羟基苯甲酸酯和异戊二烯侧链辅酶Q。辅酶Q补充后的临床改善是显着的，支持这种疾病的早期诊断的重要性。(c)2006 Elsevier B. V.保留所有权利。
Our aim was to report a new case with cerebellar ataxia associated with coenzyme Q(10)(CoQ) deficiency, the biochemical findings caused by this deficiency and the response to CoQ supplementation.Patient: A 12-year-old girl presenting ataxia and cerebellar atrophy.Biochemical studies: Coenzyme Q(10) in muscle was analysed by HPLC with electrochemical detection and mitochondrial respiratory chain (MRC) enzyme activities by spectrophotometric methods. CoQ biosynthesis in fibroblasts was assayed by studying the incorporation of radiolabeled 4-hydroxy[U-C-14] benzoic acid by HPLC with radiometric detection.Results: Mitochondrial respiratory chain enzyme analysis showed a decrease in complex I+III and complex II+III activities. CoQ concentration in muscle was decreased (56 nmol/g of protein: reference values: 157-488 nmol/g protein). A reduced incorporation of radiolabeled 4-hydroxy[U-C-14] benzoic acid was observed in the patient (19% of incorporation respect to the median control values). After 16 months of CoQ supplementation, the patient is now able to walk unaided and cerebellar signs have disappeared.Conclusions: Cerebellar ataxia associated with CoQ deficiency in our case might be allocated in the transprenylation pathway or in the metabolic steps after condensation of 4-hydroxybenzoate and the prenyl side chain of CoQ. Clinical improvement after CoQ supplementation was remarkable, supporting the importance of an early diagnosis of this kind of disorders. (c) 2006 Elsevier B.V. All rights reserved.