Neurology Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Neurology Department, People's Hospital of Hunan Province, Changsha, China.
Muscle Nerve. 2021 May;63(5):697-702. doi: 10.1002/mus.27188. Epub 2021 Mar 8.
Peripheral nerve hyperexcitability syndrome (PNHS) is characterized by muscle fasciculations and spasms. Nerve hyperexcitability and after-discharges can be observed in electrophysiological studies. Autoimmune mechanisms play a major role in the pathophysiology of primary PNHS.
We retrospectively conducted a case-control study recruiting patients with clinical and electrophysiological features of PNHS. Control patients were diagnosed with other neuronal or muscular diseases. Contactin-associated protein2 (CASPR2) and leucine-rich glioma-inactivated1 (LGI1) antibodies were examined.
A total of 19 primary PNHS patients and 39 control patients were analyzed. The most common symptoms for the case group were fasciculations (11/19) and muscle spasms (13/19). Case group patients were likely to demonstrate electrodiagnostic findings of nerve hyperexcitability (17/19) and after-discharges in the tibial nerve (19/19). We found high prevalence of CASPR2 (9/19) and LGI1 (6/19) antibodies in the case group.
Primary PNHS patients were likely to show after-discharges in the tibial nerve. The pathogenesis of PNHS is autoimmune CASPR2 and LGI1 antibodies are possible pathogenic antibodies for primary PNHS.
周围神经兴奋性过高综合征（PNHS）的特征为肌肉抽搐和痉挛。电生理研究中可观察到神经兴奋性过高和后放电。自身免疫机制在原发性 PNHS 的病理生理学中起主要作用。
我们回顾性地进行了一项病例对照研究，招募了具有 PNHS 的临床和电生理特征的患者。对照组患者被诊断为其他神经元或肌肉疾病。检测接触蛋白相关蛋白 2（CASPR2）和富含亮氨酸胶质瘤失活 1 蛋白（LGI1）抗体。
共分析了 19 例原发性 PNHS 患者和 39 例对照组患者。病例组最常见的症状为肌束震颤（11/19）和肌肉痉挛（13/19）。病例组患者更有可能表现出神经兴奋性过高的电诊断发现（17/19）和胫骨神经的后放电（19/19）。我们发现病例组中 CASPR2（9/19）和 LGI1（6/19）抗体的高患病率。
原发性 PNHS 患者更有可能出现胫骨神经的后放电。PNHS 的发病机制是自身免疫性的，CASPR2 和 LGI1 抗体可能是原发性 PNHS 的致病抗体。
