Chong Xie1, Ze Wang1, Nan Zhao1, Desheng Zhu1, Xiajun Zhou1, Jie Ding1, Yifan Wu1, Haojun Yu1, Yangtai Guan2. 1. Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, 160 Pujian Road, Pudong, Shanghai, 200127, China. 2. Department of Neurology, Renji Hospital, Shanghai Jiaotong University School of Medicine, 160 Pujian Road, Pudong, Shanghai, 200127, China. yangtaiguan@sina.com.
Abstract
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.
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.
Entities:
Keywords:
Anti-neurofascin186; Autoimmune antibodies; Central nervous system; Magnetic resonance imaging
Authors: Kathrin Doppler; Luise Appeltshauser; Kai Wilhelmi; Carmen Villmann; Sulayman D Dib-Hajj; Stephen G Waxman; Mathias Mäurer; Andreas Weishaupt; Claudia Sommer Journal: J Neurol Neurosurg Psychiatry Date: 2015-02-18 Impact factor: 10.154
Authors: Diane L Sherman; Steven Tait; Shona Melrose; Richard Johnson; Barbara Zonta; Felipe A Court; Wendy B Macklin; Stephen Meek; Andrew J H Smith; David F Cottrell; Peter J Brophy Journal: Neuron Date: 2005-12-08 Impact factor: 17.173