Year: 2021
Type: article
Study design: Observational Study
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.
Authors: 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 Zimprich, Cornelia 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
Institutions: Universitat Autònoma de Barcelona, University Health Network, University of Toronto, Paracelsus Medical University, Hospital de Sant Pau, Toronto General Hospital, Erasmus MC, Hospital Universitario Virgen de las Nieves, St. Josef-Hospital, Hospital Universitari Sant Joan de Reus, St. Joseph-Krankenhaus, Hospital Universitari de Girona Doctor Josep Trueta, IRCCS Humanitas Research Hospital, Institut de Recerca Sant Pau, Medical University of Vienna, Ruhr University Bochum
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,450
Funders: Sanofi, Biogen, Teva Pharmaceutical Industries, Celgene, CSL Behring, GBS/CIDP Foundation International, Sarepta Therapeutics, European Commission, Fondazione Cariplo, Ministero della Salute, Universitat Autònoma de Barcelona, Grifols, Fondazione Regionale per la Ricerca Biomedica, Medical Research Council, Instituto de Salud Carlos III
OpenAlex ID: W3208942552