Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.
Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Neuromuscul Disord. 2023 Aug;33(8):636-642. doi: 10.1016/j.nmd.2023.06.010. Epub 2023 Jun 28.
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.
神经肌强直和痉挛-抽搐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-抽搐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。对经肌电图定义为神经肌强直和痉挛-抽搐综合征的成年患者的可用血清进行了间接免疫荧光法在鼠脑切片和活细胞基础检测，以检测神经抗体。共纳入 40 例患者，其中 14 例为神经肌强直，26 例为痉挛-抽搐。在 10/10 例神经肌强直血清中检测到神经抗体，最常见的是针对接触蛋白相关蛋白 2（7/10，70%），在 20/26 例（5%）痉挛-抽搐综合征血清中检测到 1 例。临床肌束颤动、多汗症和感觉异常或神经病理性疼痛在神经肌强直中更为常见，且主要与接触蛋白相关蛋白 2 抗体相关。中枢神经系统受累见于 14/14（29%）神经肌强直患者。在 14/14（93%）神经肌强直患者中发现肿瘤（胸腺瘤，13 例），在 26/26（15%）痉挛-抽搐综合征患者中发现 4 例（胸腺瘤，1 例；其他肿瘤，3 例）。21/27（78%）患者获得显著改善或完全缓解。我们的研究结果强调了有助于神经肌强直和痉挛-抽搐综合征诊断的临床、神经生理学和血清学线索。抗体检测对神经肌强直的诊断很有价值，但其在痉挛-抽搐综合征的确认中的作用有限。
