Long term follow-up in 1 anti-contactin-1 autoimmune nodopathy
Caballero-Ávila, Marta (Institut de Recerca Sant Pau)
Martín-Aguilar, Lorena (Institut de Recerca Sant Pau)
Pascual-Goñi, Elba (Institut de Recerca Sant Pau)
Michael, Milou (Amsterdam University Medical Center (UMC))
Koel-Simmelink, Marleen J.A. (Amsterdam University Medical Center (UMC))
Höftberger, Romana (Medical University of Vienna)
Wanschitz, Julia (Department of Neurology, Medical University of Innsbruck)
Alonso-Jiménez, Alicia (University of Antwerp)
Armangue, Thais (Hospital Clínic i Provincial de Barcelona)
Baars, Adája Elisabeth (Erasmus MC University Medical Center Rotterdam)
Carbayo Viejo, Álvaro (Institut de Recerca Sant Pau)
Castek, Barbara (Landeskrankenhaus Villach)
Collet Vidiella, Roger (Institut de Recerca Sant Pau)
De Winter, Jonathan (University of Antwerp)
Del Real, Maria Angeles (Hospital General Universitario de Ciudad Real)
Delmont, Emilien (Hospital La Timone (França))
Diamanti, Luca (IRCCS Mondino Foundation (Pavia, Itàlia))
Doneddu, Pietro Emiliano (Humanitas University. Department of Biomedical Sciences)
Hiew, Fu Liong (Sunway Medical Centre)
Gallardo, Eduard (Institut de Recerca Sant Pau)
Gonzalez, Amaia (Hospital Universitario de Cruces (Barakaldo, País Basc))
Grinzinger, Susanne (Christian-Doppler Klinik)
Horga, Alejandro (Hospital Universitario Clínico San Carlos (Madrid))
Iglseder, Stephan (Krankenhaus Barmherzige Brüder)
Jacobs, Bart C. (Erasmus MC University Medical Center Rotterdam)
Jauregui, Amaia (Hospital Universitario de Cruces (Barakaldo, País Basc))
Killestein, Joep (Amsterdam University Medical Center (UMC))
Lindeck Pozza, Elisabeth (Klinik Favoriten)
Martinez-Martinez, Laura (Institut de Recerca Sant Pau)
Nobile-Orazio, Eduardo (Irccs Humanitas Research Hospital. Milan University)
Ortiz-Castellon, Nicolau (Hospital Universitari Sant Joan de Reus (Tarragona))
Pérez-Pérez, Helena (Hospital Universitario de Canarias (La Laguna))
Poppert, Kai-Nicolas (Christian-Doppler Klinik)
Ripellino, Paolo (Università della Svizzera Italiana)
Roche, Jose Carlos (Hospital Universitario Miguel Servet (Saragossa))
Rodriguez de Rivera, Franscisco Javier (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Rostasy, Kevin (University of Witten/Herdecke)
Sparasci, Davide (Università della Svizzera Italiana)
Tejada-Illa, Clara (Institut de Recerca Sant Pau)
Teunissen, Charlotte C.E. (Amsterdam University Medical Center (UMC))
Vegezzi, Elisa (IRCCS Mondino Foundation (Pavia, Itàlia))
Xuclà-Ferrarons, Tomàs (Hospital de Sant Joan Despí Moisès Broggi)
Zach, Fabian (Kardinal Schwarzenberg Klinikum)
Wieske, Luuk (Amsterdam University Medical Center (UMC))
Eftimov, Filip (Amsterdam University Medical Center (UMC))
Lleixà, Cinta (Institut de Recerca Sant Pau)
Querol, Luis (Institut de Recerca Sant Pau)
Universitat Autònoma de Barcelona. Departament de Medicina

Data:	2024
Resum:	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.
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Llengua:	Anglès
Document:	Article ; recerca ; Versió sotmesa a revisió
Publicat a:	Annals of Neurology, 2024

DOI: 10.1101/2024.06.25.24309231

Disponible a partir de: 2099-01-01 Postprint 856 42

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Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut de Recerca Sant Pau
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