Lang Bethan, Vincent Angela
Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.
Autoimmun Rev. 2003 Mar;2(2):94-100. doi: 10.1016/s1568-9972(02)00146-5.
Autoantibodies directed against voltage- or ligand-gated ion channels and their associated proteins at the neuromuscular junction give rise to a family of neurological autoimmune diseases. Antibodies to acetylcholine receptors or muscle-specific kinase present on the postsynaptic muscle membrane are associated with different forms of myasthenia gravis (MG). Antibodies to the presynaptic voltage-gated potassium and calcium channels are responsible for acquired neuromyotonia and Lambert-Eaton myasthenic syndrome (LEMS), respectively. The patients respond to immunotherapies and their plasma can transfer defects in neuromuscular transmission to mice, indicating that these are antibody-mediated conditions. In a small proportion of cases, ion channel antibodies have also been implicated in neurological dysfunction in the central nervous system. In these conditions, a proportion of the patients have an underlying tumour, thymoma in both MG and neuromyotonia and small cell lung carcinoma in LEMS, emphasising the putative role of autoimmunity to tumour antigens as a cause of neurological disease.
针对神经肌肉接头处电压门控或配体门控离子通道及其相关蛋白的自身抗体引发了一系列神经自身免疫性疾病。突触后肌膜上的乙酰胆碱受体或肌肉特异性激酶的抗体与不同形式的重症肌无力（MG）相关。突触前电压门控钾通道和钙通道的抗体分别导致获得性神经性肌强直和兰伯特-伊顿肌无力综合征（LEMS）。患者对免疫疗法有反应，并且他们的血浆可将神经肌肉传递缺陷转移给小鼠，这表明这些是抗体介导的病症。在一小部分病例中，离子通道抗体也与中枢神经系统的神经功能障碍有关。在这些情况下，一部分患者有潜在肿瘤，MG和神经性肌强直患者有胸腺瘤，LEMS患者有小细胞肺癌，这强调了针对肿瘤抗原的自身免疫作为神经疾病病因的假定作用。
