Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy

Caballero-Ávila M 1 , Martín-Aguilar L 1 , Pascual-Goñi E 1 , Michael MR 2 , Koel-Simmelink MJA 3 , Höftberger R 4 Show all authors , Wanschitz J 5 , Alonso-Jiménez A 6 , Armangué T 7 , Baars AE 8 , Carbayo Á 1 , Castek B 9 , Collet-Vidiella R 1 , De Winter J 6 , Del Real MÁ 10 , Delmont E 11 , Diamanti L 12 , Doneddu PE 13 , Hiew FL 14 , Gallardo E 1 , Gonzalez A 15 , Grinzinger S 16 , Horga A 17 , Iglseder S 18 , Jacobs BC 8 , Jauregui A 15 , Killestein J 3 , Pozza EL 19 , Martínez-Martínez L 20 , Nobile-Orazio E 21 , Ortiz N 22 , Pérez-Pérez H 23 , Poppert KN 16 , Ripellino P 24 , Roche JC 25 , Rodriguez de Rivera FJ 26 , Rostasy K 27 , Sparasci D 24 , Tejada-Illa C 1 , Teunissen CCE 3 , Vegezzi E 12 , Xuclà-Ferrarons T 28 , Zach F 29 , Wieske L 2 , Eftimov F 2 , Lleixà C 1 , Querol L 1

Affiliations 

  • 1 Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain
  • 2 Department of Neurology, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
  • 3 Neurochemistry Laboratory and Biobank, Department of Clinical Chemistry, Amsterdam UMC, Amsterdam, the Netherlands
  • 4 Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria
  • 5 Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria
  • 6 Department of Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium
  • 7 Neuroimmunology program, IDIBAPS-Hospital de Clinic; University of Barcelona. Pediatric Neuroimmunology Program, Neurology Department, Sant Joan de Deu Children's Hospital, Barcelona, Spain
  • 8 Department of Neurology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands
  • 9 Department of Neurology, Landeskrankenhaus Villach, Villach, Austria
  • 10 Department of Neurology, General University Hospital of Ciudad Real, Ciudad Real, Spain
  • 11 Referral Centre for Neuromuscular Diseases and ALS, Hospital La Timone, Marseille, France
  • 12 IRCCS Mondino Foundation, Pavia, Italy
  • 13 Neuromuscular and Neuroimmunology Unit, IRCCS Humanitas Research Hospital, Rozzano, Department of Biomedical Sciences, Humanitas University, Milan, Italy
  • 14 Department of Neurology, Sunway Medical Center, Bandar Sunway, Malaysia
  • 15 Department of Neurology, University Hospital Cruces, Barakaldo, Spain
  • 16 Department of Neurology, Christian-Doppler Klinik, Salzburg, Austria
  • 17 Department of Neurology, Neuromuscular Diseases Unit, University Hospital San Carlos, Madrid, Spain
  • 18 Department of Neurology, Krankenhaus Barmherzige Brüder, Linz, Austria
  • 19 Department of Neurology, Klinik Favoriten, Vienna, Austria
  • 20 Department of Immunology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain
  • 21 Neuromuscular and Neuroimmunology Unit, IRCCS Humanitas Research Hospital, Rozzano, Department of Medical Biotechnology and Translational Medicine, Milan University, Milan, Italy
  • 22 Department of Neurology, University Hospital Sant Joan, Reus, Spain
  • 23 Department of Neurology, University Hospital of Canarias, Tenerife, Spain
  • 24 Department of Neurology, Neurocenter of Southern Switzerland EOC, Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland
  • 25 Department of Neurology, University Hospital Miguel Servet, Zaragoza, Spain
  • 26 Department of Neurology, Instituto de Investigación Sanitaria del Hospital Universitario La Paz-IdiPAZ, University Hospital La Paz, Universidad Autónoma de Madrid, Madrid, Spain
  • 27 Department of Pediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany
  • 28 Department of Neurology, Hospital Sant Joan Despí Moisès Broggi, Sant Joan Despí, Spain
  • 29 Department of Neurology, Kardinal Schwarzenberg Klinikum, Salzburg, Austria
Ann Neurol, 2024 Nov 27.
PMID: 39601182 DOI: 10.1002/ana.27142

Abstract

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 

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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