Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy

Abstract

Background and ObjectivesTo study the clinical and laboratory features of antineurofascin-155 (NF155)-positive autoimmune nodopathy (AN).MethodsPatients 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.ResultsForty 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.DiscussionAnti-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 EvidenceThis study provides Class IV evidence that anti-NF155 antibodies associate with a specific phenotype and response to rituximab.

Publication DOI: https://doi.org/10.1212/NXI.0000000000001098
Divisions: College of Health & Life Sciences
Additional Information: The Article Processing Charge was funded by authors. 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.
Uncontrolled Keywords: Neurology,Clinical Neurology
Publication ISSN: 2332-7812
Last Modified: 07 Oct 2025 07:21
Date Deposited: 07 Oct 2025 07:21
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Related URLs: http://www.scop ... tnerID=8YFLogxK (Scopus URL)
https://www.neu ... 000000000001098 (Publisher URL)
PURE Output Type: Article
Published Date: 2022-01-02
Accepted Date: 2021-09-27
Authors: Martín-Aguilar, Lorena
Lleixà, Cinta
Pascual-Goñi, Elba
Caballero-Ávila, Marta
Martínez-Martínez, Laura
Díaz-Manera, Jordi
Rojas-García, Ricard
Cortés-Vicente, Elena
Turon-Sans, Janina
De Luna, Noemi
Suárez-Calvet, Xavier
Gallardo, Eduard
Rajabally, Yusuf (ORCID Profile 0000-0002-7170-8343)
Scotton, Sangeeta
Jacobs, Bart C.
Baars, Adája
Cortese, Andrea
Vegezzi, Elisa
Höftberger, Romana
Zimprich, Fritz
Roesler, Cornelia
Nobile-Orazio, Eduardo
Liberatore, Giuseppe
Hiew, Fu Liong
Martínez-Piñeiro, Alicia
Carvajal, Alejandra
Piñar-Morales, Raquel
Usón-Martín, Mercedes
Albertí, Olalla
López-Pérez, Maria Ángeles
Márquez, Fabian
Pardo-Fernández, Julio
Muñoz-Delgado, Laura
Cabrera-Serrano, MacArena
Ortiz, Nicolau
Bartolomé, Manuel
Duman, Özgür
Bril, Vera
Segura-Chávez, Darwin
Pitarokoili, Kalliopi
Steen, Claudia
Illa, Isabel
Querol, Luis

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