TY - JOUR
T1 - Long term follow-up in anti-contactin-1 autoimmune nodopathy
AU - Caballero-Ávila, Marta
AU - Martín-Aguilar, Lorena
AU - Pascual-Goñi, Elba
AU - Michael, Milou
AU - Koel-Simmelink, Marleen J.A.
AU - Höftberger, Romana
AU - Wanschitz, Julia
AU - Alonso-Jiménez, Alicia
AU - Armangue, Thais
AU - Baars, Adája Elisabeth
AU - Carbayo Viejo, Álvaro
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 - Gonzalez, Amaia
AU - Grinzinger, Susanne
AU - Horga, Alejandro
AU - Iglseder, Stephan
AU - Jacobs, Bart C.
AU - Jauregui, Amaia
AU - Killestein, Joep
AU - Lindeck Pozza, Elisabeth
AU - Martínez-Martínez, Laura
AU - Nobile-Orazio, Eduardo
AU - Ortiz-Castellon, Nicolau
AU - Pérez-Pérez, 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 - Xuclà-Ferrarons, Tomàs
AU - Zach, Fabian
AU - Wieske, Luuk
AU - Eftimov, Filip
AU - Lleixà, Cinta
AU - Querol, Luis
PY - 2024
Y1 - 2024
N2 - Objective: To analyze long-term clinical and biomarker features of anti-contactin-1 (CNTN1) autoimmune nodopathy (AN). Methods: Patients with anti-CNTN1+ AN detected in our laboratory from which clinical information was available were included. Clinical features and treatment response were retrospectively collected. Autoantibody, serum neurofilament light (sNfL) and serum CNTN1 levels (sCNTN1) were analyzed at baseline and follow-up. Results: Thirty-one patients were included. Patients presented with progressive motor-sensory neuropathy (76.7%) with proximal (74.2%) and distal involvement (87.1%), ataxia (71.4%) and severe disability (median INCAT at nadir of 8)). Eleven patients (35%) showed kidney involvement. Most patients (97%) received IVIg but only one achieved remission with IVIg. Twenty-two patients (71%) received corticosteroids, and three of them (14%) did not need further treatments. Rituximab was effective in 21/22 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]. Anti-CNTN1 titers correlated with clinical scales at sampling and were negative after treatment in all patients but one (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 22186 pg/mL, p< 0.0001). Both sNfL and sCNTN1 returned to normal levels after successful treatment. Interpretation: Patients with anti-CNTN1+ AN 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 aCNTN1 levels are useful to monitor disease status and treatment efficacy in these patients.
AB - Objective: To analyze long-term clinical and biomarker features of anti-contactin-1 (CNTN1) autoimmune nodopathy (AN). Methods: Patients with anti-CNTN1+ AN detected in our laboratory from which clinical information was available were included. Clinical features and treatment response were retrospectively collected. Autoantibody, serum neurofilament light (sNfL) and serum CNTN1 levels (sCNTN1) were analyzed at baseline and follow-up. Results: Thirty-one patients were included. Patients presented with progressive motor-sensory neuropathy (76.7%) with proximal (74.2%) and distal involvement (87.1%), ataxia (71.4%) and severe disability (median INCAT at nadir of 8)). Eleven patients (35%) showed kidney involvement. Most patients (97%) received IVIg but only one achieved remission with IVIg. Twenty-two patients (71%) received corticosteroids, and three of them (14%) did not need further treatments. Rituximab was effective in 21/22 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]. Anti-CNTN1 titers correlated with clinical scales at sampling and were negative after treatment in all patients but one (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 22186 pg/mL, p< 0.0001). Both sNfL and sCNTN1 returned to normal levels after successful treatment. Interpretation: Patients with anti-CNTN1+ AN 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 aCNTN1 levels are useful to monitor disease status and treatment efficacy in these patients.
U2 - 10.1101/2024.06.25.24309231
DO - 10.1101/2024.06.25.24309231
M3 - Article
JO - Annals of Neurology
JF - Annals of Neurology
ER -