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线粒体疾病中的神经肌肉接头异常：一项观察性队列研究

Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study.

作者信息

Braz Luis P, Ng Yi Shiau, Gorman Gráinne S, Schaefer Andrew M, McFarland Robert, Taylor Robert W, Turnbull Doug M, Whittaker Roger G

机构信息

Department of Neurology (LPB), Centro Hospitalar Universitário de São João, Porto, Portugal; and Wellcome Centre for Mitochondrial Research (YSN, GSG, AMS, RM, RWT, DMT), Translational and Clinical Research Institute (RGW), Newcastle University, Newcastle upon Tyne, United Kingdom.

出版信息

Neurol Clin Pract. 2021 Apr;11(2):97-104. doi: 10.1212/CPJ.0000000000000795.

DOI:10.1212/CPJ.0000000000000795
PMID:33842062
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8032443/
Abstract

OBJECTIVE: To determine the prevalence of neuromuscular junction (NMJ) abnormalities in patients with mitochondrial disease. METHODS: Eighty patients with genetically proven mitochondrial disease were recruited from a national center for mitochondrial disease in the United Kingdom. Participants underwent detailed clinical and neurophysiologic testing including single-fiber electromyography. RESULTS: The overall prevalence of neuromuscular transmission defects was 25.6%. The highest prevalence was in patients with pathogenic dominant RRM2B variants (50%), but abnormalities were found in a wide range of mitochondrial genotypes. The presence of NMJ abnormalities was strongly associated with coexistent myopathy, but not with neuropathy. Furthermore, 15% of patients with NMJ abnormality had no evidence of either myopathy or neuropathy. CONCLUSIONS: NMJ transmission defects are common in mitochondrial disease. In some patients, NMJ dysfunction occurs in the absence of obvious pre- or post-synaptic pathology, suggesting that the NMJ may be specifically affected.

摘要

目的：确定线粒体疾病患者神经肌肉接头（NMJ）异常的患病率。 方法：从英国一家全国性线粒体疾病中心招募了80例经基因证实的线粒体疾病患者。参与者接受了详细的临床和神经生理学测试，包括单纤维肌电图检查。 结果：神经肌肉传递缺陷的总体患病率为25.6%。患病率最高的是携带致病性显性RRM2B变异的患者（50%），但在多种线粒体基因型中均发现了异常。NMJ异常的存在与共存的肌病密切相关，但与神经病变无关。此外，15%的NMJ异常患者没有肌病或神经病变的证据。 结论：NMJ传递缺陷在线粒体疾病中很常见。在一些患者中，NMJ功能障碍发生在没有明显突触前或突触后病理改变的情况下，这表明NMJ可能受到特异性影响。

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本文引用的文献

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