TY - JOUR
T1 - Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy
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
N1 - The Article Processing Charge was funded by authors.
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PY - 2022/1/2
Y1 - 2022/1/2
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85126170268&partnerID=8YFLogxK
UR - https://www.neurology.org/doi/pdf/10.1212/NXI.0000000000001098
U2 - 10.1212/NXI.0000000000001098
DO - 10.1212/NXI.0000000000001098
M3 - Article
C2 - 34930829
AN - SCOPUS:85126170268
SN - 2332-7812
VL - 9
JO - Neurology: Neuroimmunology and NeuroInflammation
JF - Neurology: Neuroimmunology and NeuroInflammation
IS - 1
M1 - e1098
ER -