Clinical heterogeneity of anti⁃neurofascin 155 antibody positive paranodopathy

Abstract

Objective To summarize the clinical, laboratory, imaging, electrophysiological and histopathological features and therapeutic responses of patients with paranodopathy with positive anti⁃neurofascin 155 (NF155) antibody. Methods and Results Five patients who visited Xuanwu Hospital, Capital Medical University in January 2017 to August 2020 with positive anti⁃NF155 antibody, were men with onset ages 10 to 61 years old. The clinical manifestations were subacute onset, gradual progress, distal limb weakness, numbness, tremor and ataxia. The distal limbs were more severe than the proximal and lower limbs were more severe than the upper. Five patients were positive NF155⁃IgG4. Cerebrospinal fluid protein was significant increased. There were cervical and lumbosacral nerve roots enlargement. The distal latency of compound muscle action potential (CMAP) prolonged, the conduction velocity decreased, and the F⁃wave latency extended. Sural nerve biopsy showed axonal degeneration, the Ranvier node widened, the transverse band disappeared, and the space between the myelin loop and axon increased without inflammatory cell infiltration and "onion bulb" structure. Glucocorticoid therapy and intravenous immunoglobulin (IVIg) were not effective or initially effective, then failed, while rituximab was effective. Conclusions Patients with positive anti⁃NF155 antibody paranodopathy showed heterogeneity in clinical characteristics and treatment. Early stage should do antibody examination and diagnosis. Early treatment could prevent myelin and axonal injury and preserve nerve function.

doi：10.3969/j.issn.1672⁃6731.2022.04.011