Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy

Lorena Martín-Aguilar, Cinta Lleixà, Elba Pascual-Goñi, Marta Caballero-Ávila, Laura Martínez-Martínez, Jordi Díaz-Manera, Ricard Rojas-García, Elena Cortés-Vicente, Janina Turon-Sans, Noemi de Luna, Xavier Suárez-Calvet, Eduard Gallardo, Yusuf Rajabally, Sangeeta Scotton, Bart C. Jacobs, Adája Baars, Andrea Cortese, Elisa Vegezzi, Romana Höftberger, Fritz ZimprichCornelia Roesler, Eduardo Nobile-Orazio, Giuseppe Liberatore, Fu Liong Hiew, Alicia Martínez-Piñeiro, Alejandra Carvajal, Raquel Piñar-Morales, Mercedes Usón-Martín, Olalla Albertí, Maria Ángeles López-Pérez, Fabian Márquez, Julio Pardo-Fernández, Laura Muñoz-Delgado, Macarena Cabrera-Serrano, Nicolau Ortiz, Manuel Bartolomé, Özgür Duman, Vera Bril, Darwin Segura-Chávez, Kalliopi Pitarokoili, Claudia Steen, Isabel Illa, Luis Querol

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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.

Original languageEnglish
Article numbere1098
JournalNeurology(R) neuroimmunology & neuroinflammation
Issue number1
Publication statusPublished - 2 Jan 2022

Bibliographical note

Funding Information:
This work is supported by Fondo de Investigaciones Sanitarias (FIS), Instituto de Salud Carlos III, Spain and FEDER under grant FIS19/0140 and personal grant INT20/00080, personal grant GBS-CIDP Foundation to CL, personal grant Rio Hortega CM19/00042 to LMA and the ER20P3AC7624 project of the ACCI call of the CIBERER network, Madrid, Spain. XSC was supported by a Sara Borrell postdoctoral fellowship project CD18/00195, funded by Instituto de Salud Carlos III and cofunded by European Union (ERDF/ESF, A way to make Europe/Investing in your future). A.C. thanks the Medical Research Council (MR/T001712/1), the Fondazione CARIPLO (2019-1836), the Italian Ministry of Health-Ricerca Corrente, the Inherited Neuropathy Consortium (INC) and Fondazione Regionale per la Ricerca Biomedica for grant suport

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© American Academy of Neurology.


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