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

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 pati...

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Autores principales: Svahn, Juliette, Coudert, Laurent, Streichenberger, Nathalie, Kraut, Alexandra, Gravier-Dumonceau-Mazelier, Alice, Rotard, Ludivine, Calemard-Michel, Laurence, Menassa, Rita, Errazuriz-Cerda, Elisabeth, Chalabreysse, Lara, Osseni, Alexis, Vial, Christophe, Jomir, Laurentiu, Tronc, François, Le Duy, Do, Bernard, Emilien, Gache, Vincent, Couté, Yohann, Jacquemond, Vincent, Schaeffer, Laurent, Leblanc, Pascal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756388/
https://www.ncbi.nlm.nih.gov/pubmed/36522170
http://dx.doi.org/10.1212/NXI.0000000000200068
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author Svahn, Juliette
Coudert, Laurent
Streichenberger, Nathalie
Kraut, Alexandra
Gravier-Dumonceau-Mazelier, Alice
Rotard, Ludivine
Calemard-Michel, Laurence
Menassa, Rita
Errazuriz-Cerda, Elisabeth
Chalabreysse, Lara
Osseni, Alexis
Vial, Christophe
Jomir, Laurentiu
Tronc, François
Le Duy, Do
Bernard, Emilien
Gache, Vincent
Couté, Yohann
Jacquemond, Vincent
Schaeffer, Laurent
Leblanc, Pascal
author_facet Svahn, Juliette
Coudert, Laurent
Streichenberger, Nathalie
Kraut, Alexandra
Gravier-Dumonceau-Mazelier, Alice
Rotard, Ludivine
Calemard-Michel, Laurence
Menassa, Rita
Errazuriz-Cerda, Elisabeth
Chalabreysse, Lara
Osseni, Alexis
Vial, Christophe
Jomir, Laurentiu
Tronc, François
Le Duy, Do
Bernard, Emilien
Gache, Vincent
Couté, Yohann
Jacquemond, Vincent
Schaeffer, Laurent
Leblanc, Pascal
author_sort Svahn, Juliette
collection PubMed
description 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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spelling pubmed-97563882022-12-16 Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies Svahn, Juliette Coudert, Laurent Streichenberger, Nathalie Kraut, Alexandra Gravier-Dumonceau-Mazelier, Alice Rotard, Ludivine Calemard-Michel, Laurence Menassa, Rita Errazuriz-Cerda, Elisabeth Chalabreysse, Lara Osseni, Alexis Vial, Christophe Jomir, Laurentiu Tronc, François Le Duy, Do Bernard, Emilien Gache, Vincent Couté, Yohann Jacquemond, Vincent Schaeffer, Laurent Leblanc, Pascal Neurol Neuroimmunol Neuroinflamm Clinical/Scientific Note 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. Lippincott Williams & Wilkins 2022-12-15 /pmc/articles/PMC9756388/ /pubmed/36522170 http://dx.doi.org/10.1212/NXI.0000000000200068 Text en Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Clinical/Scientific Note
Svahn, Juliette
Coudert, Laurent
Streichenberger, Nathalie
Kraut, Alexandra
Gravier-Dumonceau-Mazelier, Alice
Rotard, Ludivine
Calemard-Michel, Laurence
Menassa, Rita
Errazuriz-Cerda, Elisabeth
Chalabreysse, Lara
Osseni, Alexis
Vial, Christophe
Jomir, Laurentiu
Tronc, François
Le Duy, Do
Bernard, Emilien
Gache, Vincent
Couté, Yohann
Jacquemond, Vincent
Schaeffer, Laurent
Leblanc, Pascal
Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies
title Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies
title_full Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies
title_fullStr Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies
title_full_unstemmed Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies
title_short Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies
title_sort immune-mediated rippling muscle disease associated with thymoma and anti-murc/cavin-4 autoantibodies
topic Clinical/Scientific Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756388/
https://www.ncbi.nlm.nih.gov/pubmed/36522170
http://dx.doi.org/10.1212/NXI.0000000000200068
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