PT  - JOURNAL ARTICLE
AU  - Martín-Aguilar, Lorena
AU  - Lleixà, Cinta
AU  - Pascual-Goñi, Elba
AU  - Caballero-Ávila, Marta
AU  - Martínez-Martínez, Laura
AU  - Díaz-Manera, Jordi
AU  - Rojas-García, Ricard
AU  - Cortés-Vicente, Elena
AU  - Turon-Sans, Janina
AU  - de Luna, Noemi
AU  - Suárez-Calvet, Xavier
AU  - Gallardo, Eduard
AU  - Rajabally, Yusuf
AU  - Scotton, Sangeeta
AU  - Jacobs, Bart C.
AU  - Baars, Adája
AU  - Cortese, Andrea
AU  - Vegezzi, Elisa
AU  - Höftberger, Romana
AU  - Zimprich, Fritz
AU  - Roesler, Cornelia
AU  - Nobile-Orazio, Eduardo
AU  - Liberatore, Giuseppe
AU  - Hiew, Fu Liong
AU  - Martínez-Piñeiro, Alicia
AU  - Carvajal, Alejandra
AU  - Piñar-Morales, Raquel
AU  - Usón-Martín, Mercedes
AU  - Albertí, Olalla
AU  - López-Pérez, Maria Ángeles
AU  - Márquez, Fabian
AU  - Pardo-Fernández, Julio
AU  - Muñoz-Delgado, Laura
AU  - Cabrera-Serrano, Macarena
AU  - Ortiz, Nicolau
AU  - Bartolomé, Manuel
AU  - Duman, Özgür
AU  - Bril, Vera
AU  - Segura-Chávez, Darwin
AU  - Pitarokoili, Kalliopi
AU  - Steen, Claudia
AU  - Illa, Isabel
AU  - Querol, Luis
TI  - Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy
AID  - 10.1212/NXI.0000000000001098
DP  - 2022 Jan 01
TA  - Neurology - Neuroimmunology Neuroinflammation
PG  - e1098
VI  - 9
IP  - 1
4099  - http://nn.neurology.org/content/9/1/e1098.short
4100  - http://nn.neurology.org/content/9/1/e1098.full
SO  - Neurol Neuroimmunol Neuroinflamm2022 Jan 01; 9
AB  - 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.CBA=cell-based assay; CIDP=chronic inflammatory demyelinating polyradiculoneuropathy; CMAP=compound muscle action potential; CNTN1=contactin-1; EMG=electromyography; GBS=Guillain-Barré syndrome; HC=Healthy control; HLA=human leukocyte antigen; ICC=immunocytochemistry; I-RODS=Inflammatory Rasch-built Overall Disability Scale; IVIg=IV immunoglobulin; mRS=modified Rankin Scale; NCS=nerve conduction study; NF140=neurofascin-140; NF155=neurofascin-155; NF186=neurofascin-186; OD=optical density; PLEX=plasma exchange; sNfL=serum neurofilament light chain