From PNS to CNS: characteristics of anti-neurofascin 186 neuropathy in 16 cases
From PNS to CNS: characteristics of anti-neurofascin 186 neuropathy in 16 cases
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从PNS到CNS：抗神经成束蛋白186神经病16例特点
DOI：
10.1007/s10072-021-05101-9
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发表时间：
2021-03-15
影响因子：
3.3
通讯作者：
Guan, Yangtai
中科院分区：
文献类型：
--
作者：
Xie, Chong;Wang, Ze;Guan, Yangtai
前言神经成束蛋白（NF）是形成和维持朗维尔结的关键。NF 186是NF的神经元形式，定位于轴突的起始段和郎维尔结。NF 186抗体在中枢神经系统（CNS）和外周神经系统（PNS）脱髓鞘疾病中均有检测。目的探讨抗NF 186 IgG神经病患者的临床特点。方法收集138例血清抗NF 186 IgG阳性患者16例（16/138），根据临床表现分为CNS受累组和PNS受累组。通过基于细胞的测定检测抗NF 186 IgG。结果7例确诊为中枢神经系统受累的患者中，最常见的症状为头晕（57%）和视力障碍（43%），磁共振成像（MRI）显示半卵圆中心、小脑和脑膜病变。相比之下，肢体无力（78%）和麻木（78%）是最常见的症状，在涉及的患者的神经传导检查证实轴突损失和脱髓鞘。12例脑脊液蛋白升高，CNS组与PNS组比较差异无统计学意义。CNS受累组脑脊液白色细胞计数明显高于PNS组。13例患者接受了免疫调节治疗，慢性发作和进行性病程的患者对治疗反应较差。结论抗NF 186 IgG神经病患者无特异性症状和体征。值得注意的是，相当多的患者仅表现出CNS受损的体征，颅脑MRI对于CNS受累的筛查至关重要。
Introduction Neurofascin (NF) is critical for the formation and maintenance of Ranvier nodes. NF186, the neuronal form of NF, localizes in the initial segment of axon and Ranvier node. NF186 antibody has been detected in demyelinating diseases of both central nervous system (CNS) and peripheral nervous system (PNS). Aims To evaluate the clinical features of patients with anti-NF186 IgG neuropathy. Methods Sixteen patients (16/138) with serum-positive anti-NF186 IgG were included and divided into groups of either CNS or PNS-involved according to their clinical manifestations. Anti-NF186 IgG was detected by cell-based assays. Results In 7 patients who were confirmed to have CNS involvement, the most frequent symptoms were dizziness (57%) and vision impairment (43%); lesions in centrum semiovale, cerebellum, and meninges were shown by magnetic resonance imaging (MRI). In comparison, limb weakness (78%) and numbness (78%) were the most common symptoms in PNS-involved patients; axonal loss and demyelination were confirmed by nerve conduction examinations. Elevated level of cerebrospinal fluid (CSF) protein was found in 12 cases without statistically significant difference between the CNS and PNS groups. Meanwhile, CSF white blood cell counts were found significantly elevated in CNS-involved patients compared with patients of PNS group. Thirteen patients received immunomodulating treatments, and patients with chronic onset and progressive course showed poor response to the therapies. Conclusions Patients with anti-NF186 IgG neuropathy showed no specific symptoms or signs. It is worth noting that quite a few patients show CNS-impaired signs only, and cranial MRI is essential for the screening of CNS involvement.