Abstract：
Neuromyotonia and cramp-fasciculation syndrome diagnosis currently relies on neurophysiological examination. In this study we investigated the clinical features and neural antibody profile of patients with neuromyotonia and cramp-fasciculation syndrome to assess the diagnostic value of serological testing. Available sera from adult patients with electromyography-defined neuromyotonia and cramp-fasciculation syndrome were tested for neural antibodies by indirect immunofluorescence on mouse brain sections and live cell-based assays. Forty patients were included, 14 with neuromyotonia and 26 with cramp-fasciculation syndrome. Neural antibodies were detected in 10/10 neuromyotonia sera, most commonly against contactin-associated protein 2 (7/10, 70%), and in 1/20 (5%) cramp-fasciculation syndrome sera. Clinical myokymia, hyperhidrosis, and paresthesia or neuropathic pain were more common in neuromyotonia and mostly associated with contactin-associated protein 2 antibodies. Central nervous system involvement was present in 4/14 (29%) neuromyotonia patients. A tumor was detected in 13/14 (93%) neuromyotonia patients (thymoma, 13), and in 4/26 (15%) with cramp-fasciculation syndrome (thymoma, 1; other neoplasms, 3). Twenty-one/27 (78%) patients achieved a significant improvement or complete remission. Our findings highlight clinical, neurophysiological and serological clues that can be useful in the diagnosis of neuromyotonia and cramp-fasciculation syndrome. Antibody testing is valuable for neuromyotonia diagnosis, while its usefulness in cramp-fasciculation syndrome confirmation is limited.
摘要：
神经肌强直和痉挛-肌束震颤综合征的诊断目前依赖于神经生理学检查。在这项研究中，我们调查了神经肌强直和痉挛-肌束震颤综合征患者的临床特征和神经抗体谱，以评估血清学检测的诊断价值。通过在小鼠脑切片上进行间接免疫荧光和基于活细胞的测定，对患有肌电图定义的神经肌强直和痉挛-肌束震颤综合征的成年患者的可用血清进行了神经抗体测试。包括40名患者，14伴有神经肌强直和26伴有痉挛-肌束震颤综合征。在10/10的神经肌强直血清中检测到神经抗体，最常见的是针对contactin相关蛋白2（7/10，70％），并在1/20（5％）痉挛-束流综合征血清中。临床肌无力,多汗症,感觉异常或神经性疼痛在神经肌强直中更为常见，并且主要与contactin相关蛋白2抗体相关。4/14（29％）的神经肌强直患者存在中枢神经系统受累。在13/14（93％）的神经肌强直患者中检测到肿瘤（胸腺瘤，13),在4/26（15％）患有痉挛-肌束震颤综合征（胸腺瘤，1；其他肿瘤，3).21/27（78％）患者获得了显着改善或完全缓解。我们的发现强调了临床，神经生理学和血清学线索，可用于诊断神经肌强直和痉挛-肌束震颤综合征。抗体检测对神经肌强直的诊断很有价值，虽然其在痉挛-肌束震颤综合征确认中的作用是有限的。
