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.
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy / L. Martín-Aguilar, C. Lleixà, E. Pascual-Goñi, M. Caballero-Ávila, L. Martínez-Martínez, J. Díaz-Manera, R. Rojas-García, E. Cortés-Vicente, J. Turon-Sans, N. de Luna, X. Suárez-Calvet, E. Gallardo, Y. Rajabally, S. Scotton, B.C. Jacobs, A. Baars, A. Cortese, E. Vegezzi, R. Höftberger, F. Zimprich, C. Roesler, E. Nobile-Orazio, G. Liberatore, F.L. Hiew, A. Martínez-Piñeiro, A. Carvajal, R. Piñar-Morales, M. Usón-Martín, O. Albertí, M.Á. López-Pérez, F. Márquez, J. Pardo-Fernández, L. Muñoz-Delgado, M. Cabrera-Serrano, N. Ortiz, M. Bartolomé, Ö. Duman, V. Bril, D. Segura-Chávez, K. Pitarokoili, C. Steen, I. Illa, L. Querol. - In: NEUROLOGY® NEUROIMMUNOLOGY & NEUROINFLAMMATION. - ISSN 2332-7812. - 9:1(2022 Jan), pp. e1098.1-e1098.13. [10.1212/NXI.0000000000001098]
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy
E. Nobile-Orazio;
2022
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.
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