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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
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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. |
format | Online Article Text |
id | pubmed-9756388 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
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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