TY - JOUR
T1 - Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy
AU - Caballero-avila, Marta
AU - Martin-Aguilar, Lorena
AU - Pascual-Goni, Elba
AU - Michael, Milou R.
AU - Koel-Simmelink, Marleen J. A.
AU - Hoeftberger, Romana
AU - Wanschitz, Julia
AU - Alonso-Jimenez, Alicia
AU - Armangue, Thais
AU - Baars, Adaja Elisabeth
AU - Carbayo, Alvaro
AU - Castek, Barbara
AU - Collet-Vidiella, Roger
AU - De Winter, Jonathan
AU - del Real, Maria angeles
AU - Delmont, Emilien
AU - Diamanti, Luca
AU - Doneddu, Pietro Emiliano
AU - Hiew, Fu Liong
AU - Gallardo, Eduard
AU - Gonzalez, Amaia
AU - Grinzinger, Susanne
AU - Horga, Alejandro
AU - Iglseder, Stephan
AU - Jacobs, Bart C.
AU - Jauregui, Amaia
AU - Killestein, Joep
AU - Pozza, Elisabeth Lindeck
AU - Martinez-Martinez, Laura
AU - Nobile-Orazio, Eduardo
AU - Ortiz, Nicolau
AU - Perez-Perez, Helena
AU - Poppert, Kai-Nicolas
AU - Ripellino, Paolo
AU - Roche, Jose Carlos
AU - Rodriguez de Rivera, Franscisco Javier
AU - Rostasy, Kevin
AU - Sparasci, Davide
AU - Tejada-Illa, Clara
AU - Teunissen, Charlotte C. E.
AU - Vegezzi, Elisa
AU - Xucla-Ferrarons, Tomas
AU - Zach, Fabian
AU - Wieske, Luuk
AU - Eftimov, Filip
AU - Lleixa, Cinta
AU - Querol, Luis
N1 - Publisher Copyright:
© 2024 American Neurological Association.
PY - 2025/3
Y1 - 2025/3
N2 - Objective: To analyze long-term clinical and biomarker features of anti-contactin-1 (CNTN1) autoimmune nodopathy (AN). Methods: Patients with anti-CNTN1
+ autoimmune nodopathy detected in our laboratory from which clinical information was available were included. Clinical features and treatment response were retrospectively collected. Autoantibody, serum neurofilament light chain (sNfL), and serum CNTN1 levels (sCNTN1) were analyzed at baseline and follow up. Results: A total of 31 patients were included. Patients presented with progressive sensory motor neuropathy (76.7%) with proximal (74.2%) and distal involvement (87.1%), ataxia (71.4%), and severe disability (median INCAT at nadir of 8). A total of 11 patients (35%) showed kidney involvement. Most patients (97%) received intravenous immunoglobulin, but only 1 achieved remission with intravenous immunoglobulin. A total of 22 patients (71%) received corticosteroids, and 3 of them (14%) did not need further treatments. Rituximab was effective in 21 of 22 patients (95.5%), with most of them (72%) receiving a single course. Four patients (12.9%) relapsed after a median follow up of 25 months after effective treatment (12–48 months). Anti-CNTN1 titers correlated with clinical scales at sampling and were negative after treatment in all patients, but 1 (20/21). sNfL levels were significantly higher and sCNTN1 significantly lower in anti-CNTN1
+ patients than in healthy controls (sNfL: 135.9 pg/ml vs 7.48 pg/ml, sCNTN1: 25.03 pg/ml vs 22,186 pg/ml, p < 0.0001). Both sNfL and sCNTN1 returned to normal levels after successful treatment. Interpretation: Patients with anti-CNTN1
+ autoimmune nodopathy have a characteristic clinical profile. Clinical and immunological relapses are infrequent after successful treatment, suggesting that continuous treatment is unnecessary. Anti-CNTN1 antibodies, sNfL, and sCNTN1 levels are useful to monitor disease status in these patients. ANN NEUROL 2025;97:529–541.
AB - Objective: To analyze long-term clinical and biomarker features of anti-contactin-1 (CNTN1) autoimmune nodopathy (AN). Methods: Patients with anti-CNTN1
+ autoimmune nodopathy detected in our laboratory from which clinical information was available were included. Clinical features and treatment response were retrospectively collected. Autoantibody, serum neurofilament light chain (sNfL), and serum CNTN1 levels (sCNTN1) were analyzed at baseline and follow up. Results: A total of 31 patients were included. Patients presented with progressive sensory motor neuropathy (76.7%) with proximal (74.2%) and distal involvement (87.1%), ataxia (71.4%), and severe disability (median INCAT at nadir of 8). A total of 11 patients (35%) showed kidney involvement. Most patients (97%) received intravenous immunoglobulin, but only 1 achieved remission with intravenous immunoglobulin. A total of 22 patients (71%) received corticosteroids, and 3 of them (14%) did not need further treatments. Rituximab was effective in 21 of 22 patients (95.5%), with most of them (72%) receiving a single course. Four patients (12.9%) relapsed after a median follow up of 25 months after effective treatment (12–48 months). Anti-CNTN1 titers correlated with clinical scales at sampling and were negative after treatment in all patients, but 1 (20/21). sNfL levels were significantly higher and sCNTN1 significantly lower in anti-CNTN1
+ patients than in healthy controls (sNfL: 135.9 pg/ml vs 7.48 pg/ml, sCNTN1: 25.03 pg/ml vs 22,186 pg/ml, p < 0.0001). Both sNfL and sCNTN1 returned to normal levels after successful treatment. Interpretation: Patients with anti-CNTN1
+ autoimmune nodopathy have a characteristic clinical profile. Clinical and immunological relapses are infrequent after successful treatment, suggesting that continuous treatment is unnecessary. Anti-CNTN1 antibodies, sNfL, and sCNTN1 levels are useful to monitor disease status in these patients. ANN NEUROL 2025;97:529–541.
UR - http://www.scopus.com/inward/record.url?scp=85210384562&partnerID=8YFLogxK
M3 - Article
C2 - 39601182
SN - 0364-5134
VL - 97
SP - 529
EP - 541
JO - Annals of Neurology
JF - Annals of Neurology
IS - 3
ER -