Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy

Martín-Aguilar L.; Lleixà C.; Pascual-Goñi E.; Caballero-Ávila M.; Martínez-Martínez L.; Díaz-Manera J.; Rojas-García R.; Cortés-Vicente E.; Turon-Sans J.; De Luna N.; Suárez-Calvet X.; Gallardo E.; Rajabally Y.; Scotton S.; Jacobs B.C.; Baars A.; Cortese A.; Vegezzi E.; Höftberger R.; Zimprich F.; Roesler C.; Nobile-Orazio E.; Liberatore G.; Hiew F.L.; Martínez-Piñeiro A.; Carvajal A.; Piñar-Morales R.; Usón-Martín M.; Albertí O.; López-Pérez M.Á.; Márquez F.; Pardo-Fernández J.; Muñoz-Delgado L.; Cabrera-Serrano M.; Ortiz N.; Bartolomé M.; Duman Ö.; Bril V.; Segura-Chávez D.; Pitarokoili K.; Steen C.; Illa I.; Querol L. · Neurology: Neuroimmunology and NeuroInflammation (2022) · DOI: 10.1212/nxi.0000000000001098

Resumen

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. © American Academy of Neurology.