Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue (Data Paper) Neurology Neuroimmunology & Neuroinflammation Année : 2023

Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies

Juliette Svahn
  • Fonction : Auteur
Laurent Coudert
  • Fonction : Auteur
Nathalie Streichenberger
  • Fonction : Auteur
Ludivine Rotard
  • Fonction : Auteur
Laurence Calemard-Michel
  • Fonction : Auteur
Rita Menassa
  • Fonction : Auteur
Elisabeth Errazuriz-Cerda
  • Fonction : Auteur
Lara Chalabreysse
  • Fonction : Auteur
Alexis Osseni
  • Fonction : Auteur
Christophe Vial
  • Fonction : Auteur
Laurentiu Jomir
  • Fonction : Auteur
François Tronc
  • Fonction : Auteur
Do Le Duy
  • Fonction : Auteur
Emilien Bernard
  • Fonction : Auteur
Vincent Gache
  • Fonction : Auteur
Vincent Jacquemond
  • Fonction : Auteur
Laurent Schaeffer
  • Fonction : Auteur
Pascal Leblanc

Résumé

Objectives Rippling muscle disease (RMD) is characterized by muscle stiffness, muscle hypertrophy, and rippling muscle induced by stretching or percussion. Hereditary RMD is due to sequence variants in the CAV3 and PTRF/CAVIN1 genes encoding Caveolin-3 or Cavin-1, respectively; a few series of patients with acquired autoimmune forms of RMD (iRMD) associated with AChR antibody–positive myasthenia gravis and/or thymoma have also been described. Recently, MURC/caveolae-associated protein 4 (Cavin-4) autoantibody was identified in 8 of 10 patients without thymoma, highlighting its potential both as a biomarker and as a triggering agent of this pathology. Here, we report the case of a patient with iRMD-AchR antibody negative associated with thymoma. Methods We suspected a paraneoplastic origin and investigated the presence of specific autoantibodies targeting muscle antigens through a combination of Western blotting and affinity purification coupled with mass spectrometry–based proteomic approaches. Results We identified circulating MURC/Cavin-4 autoantibodies and found strong similarities between histologic features of the patient's muscle and those commonly reported in caveolinopathies. Strikingly, MURC/Cavin-4 autoantibody titer strongly decreased after tumor resection and immunotherapy correlating with complete disappearance of the rippling phenotype and full patient remission. Discussion MURC/Cavin-4 autoantibodies may play a pathogenic role in paraneoplastic iRMD associated with thymoma.
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Dates et versions

hal-04293370 , version 1 (23-11-2023)

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Juliette Svahn, Laurent Coudert, Nathalie Streichenberger, Alexandra Kraut, Alice Gravier-Dumonceau-Mazelier, et al.. Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies. Neurology Neuroimmunology & Neuroinflammation, 2023, 10 (1), pp.e200068. ⟨10.1212/NXI.0000000000200068⟩. ⟨hal-04293370⟩
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