Mitochondrial pathology in progressive cerebellar ataxia.
Mitochondrial pathology in progressive cerebellar ataxia.
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DOI：
10.1186/s40673-015-0035-x
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发表时间：
2015
影响因子：
--
通讯作者：
Hadjivassiliou M
中科院分区：
文献类型：
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作者：
Bargiela D;Shanmugarajah P;Lo C;Blakely EL;Taylor RW;Horvath R;Wharton S;Chinnery PF;Hadjivassiliou M
线粒体疾病可表现为多器官功能障碍，常伴有神经功能障碍。小脑共济失调单独或与其他特征结合可能由线粒体疾病引起，但使用血液DNA的基因检测不足以排除这是共济失调的原因。肌肉活检是一个有用的诊断工具，共济失调怀疑线粒体疾病的患者。我们的目的是确定肌肉活检的特定患者选择标准，以了解线粒体突变的频率如何导致进行性共济失调。我们对2004年至2014年期间因疑似线粒体疾病接受肌肉活检的不明原因进行性共济失调患者进行了一项两中心回顾性审查（谢菲尔德和纽卡斯尔共济失调中心）。共确定了126例患者; 26例在纽卡斯尔进行评估，100例在谢菲尔德进行评估。24例患者有单纯共济失调，102例有共济失调伴其他特征。患有组织学疑似和/或遗传学证实的线粒体疾病的患者总数为29/126（23%）。大部分进行性共济失调患者（23%）接受肌肉活检，发现有线粒体功能障碍的特点，在一些分子确认。肌肉活检是进行性共济失调患者线粒体疾病的一个有用的诊断工具。
Mitochondrial disease can manifest as multi-organ disorder, often with neurological dysfunction. Cerebellar ataxia in isolation or in combination with other features can result from mitochondrial disease yet genetic testing using blood DNA is not sufficient to exclude this as a cause of ataxia. Muscle biopsy is a useful diagnostic tool for patients with ataxia suspected of mitochondrial disease. Our aim was to determine specific patient selection criteria for muscle biopsy to see how frequent mitochondrial mutations are responsible for progressive ataxia. We performed a two centre retrospective review of patients with unexplained progressive ataxia who underwent muscle biopsy for suspected mitochondrial disease between 2004 and 2014 (Sheffield and Newcastle Ataxia Centres). A total of 126 patients were identified; 26 assessed in Newcastle and 100 in Sheffield. Twenty-four patients had pure ataxia and 102 had ataxia with additional features. The total number of patients with histologically suspected and/or genetically confirmed mitochondrial disease was 29/126 (23 %). A large proportion of patients (23 %) with progressive ataxia who underwent muscle biopsy were found to have features of mitochondrial dysfunction, with molecular confirmation in some. Muscle biopsy is a helpful diagnostic tool for mitochondrial disease in patients with progressive ataxia.