Abstract
Background and Objectives To study the clinical and laboratory features of antineurofascin-155 (NF155)–positive autoimmune nodopathy (AN).
Methods Patients with anti-NF155 antibodies detected on routine immunologic testing were included. Clinical characteristics, treatment response, and functional scales (modified Rankin Scale [mRS] and Inflammatory Rasch-built Overall Disability Scale [I-RODS]) were retrospectively collected at baseline and at the follow-up. Autoantibody and neurofilament light (NfL) chain levels were analyzed at baseline and at the follow-up.
Results Forty NF155+ patients with AN were included. Mean age at onset was 42.4 years. Patients presented with a progressive (75%), sensory motor (87.5%), and symmetric distal-predominant weakness in upper (97.2%) and lower extremities (94.5%), with tremor and ataxia (75%). Patients received a median of 3 (2–4) different treatments in 46 months of median follow-up. Response to IV immunoglobulin (86.8%) or steroids (72.2%) was poor in most patients, whereas 77.3% responded to rituximab. HLA-DRB1*15 was detected in 91.3% of patients. IgG4 anti-NF155 antibodies were predominant in all patients; anti-NF155 titers correlated with mRS within the same patient (r = 0.41, p = 0.004). Serum NfL (sNfL) levels were higher in anti-NF155+ AN than in healthy controls (36.47 vs 7.56 pg/mL, p < 0.001) and correlated with anti-NF155 titers (r = 0.43, p = 0.001), with I-RODS at baseline (r = −0.88, p < 0.001) and with maximum I-RODS achieved (r = −0.58, p = 0.01). Anti-NF155 titers and sNfL levels decreased in all rituximab-treated patients.
Discussion Anti-NF155 AN presents a distinct clinical profile and good response to rituximab. Autoantibody titers and sNfL are useful to monitor disease status in these patients. The use of untagged-NF155 plasmids minimizes the detection of false anti-NF155+ cases.
Classification of Evidence This study provides Class IV evidence that anti-NF155 antibodies associate with a specific phenotype and response to rituximab.
Glossary
- CBA=
- cell-based assay;
- CIDP=
- chronic inflammatory demyelinating polyradiculoneuropathy;
- CMAP=
- compound muscle action potential;
- CNTN1=
- contactin-1;
- EMG=
- electromyography;
- GBS=
- Guillain-Barré syndrome;
- HC=
- Healthy control;
- HLA=
- human leukocyte antigen;
- ICC=
- immunocytochemistry;
- I-RODS=
- Inflammatory Rasch-built Overall Disability Scale;
- IVIg=
- IV immunoglobulin;
- mRS=
- modified Rankin Scale;
- NCS=
- nerve conduction study;
- NF140=
- neurofascin-140;
- NF155=
- neurofascin-155;
- NF186=
- neurofascin-186;
- OD=
- optical density;
- PLEX=
- plasma exchange;
- sNfL=
- serum neurofilament light chain
Footnotes
↵* These authors contributed equally to this work as co-first authors.
Go to Neurology.org/NN for full disclosures. Funding information is provided at the end of the article.
The Article Processing Charge was funded by authors.
Class of Evidence: NPub.org/coe
- Received March 2, 2021.
- Accepted in final form September 27, 2021.
- Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
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