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

Juliette Svahn1, Laurent Coudert1, Nathalie Streichenberger1

  • 1From the Electroneuromyography and Neuromuscular Department (J.S., A.G.-D.-M., C.V., L.J., E.B.), Pierre Wertheimer Hospital, Hospices Civils de Lyon; Institut NeuroMyoGène Physiopathologie et Génétique du neurone et du muscle (INMG-PGNM) (J.S., Laurent Coudert, N.S., L.R., L.C.-M., R.M., A.O., E.B., V.G., V.J., L.S., P.L.), CNRS UMR5261, INSERM U1315, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, Cedex; Department of Neuropathology (N.S., Lara Chalabreysse), Hospices Civils de Lyon; Univ. Grenoble Alpes (A.K., Y.C.), INSERM, CEA, UMR BioSanté U1292, CNRS, CEA; Department of Molecular Endocrinology and Rare Diseases (L.C.-M., R.M.), Hospices Civils de Lyon; Centre d'imagerie quantitative Lyon Est (CIQLE) (E.E.-C.), Department of Thoracic Surgery (F.T.), Hospices Civils de Lyon; Institut NeuroMyoGène INMG-MeLiS (D.L.D.), CNRS UMR5284, INSERM U1314, SynatAc Team, Faculté de Médecine Rockefeller, Universités de Lyon, Université Claude Bernard Lyon 1; and French Reference Center on Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis (D.L.D.), Hospices Civils de Lyon, France.

Neurology(R) Neuroimmunology & Neuroinflammation
|December 15, 2022
PubMed
Abstract

Insights

Acquired autoimmune rippling muscle disease (iRMD) in a patient with thymoma was linked to MURC/Cavin-4 autoantibodies. Treatment targeting the tumor and immunotherapy led to antibody titer reduction and symptom remission, suggesting a pathogenic role.

Area of Science:

  • Neurology
  • Immunology
  • Genetics

Background:

  • Rippling muscle disease (RMD) presents with muscle stiffness and hypertrophy.
  • Hereditary RMD involves CAV3 or PTRF/CAVIN1 gene variants.
  • Acquired autoimmune RMD (iRMD) is occasionally linked to myasthenia gravis and thymoma.

Observation:

  • A case of anti-acetylcholine receptor (AChR) antibody-negative iRMD associated with thymoma is presented.
  • The patient exhibited circulating MURC/Cavin-4 autoantibodies.
  • Muscle histology showed similarities to caveolinopathies.

Findings:

  • MURC/Cavin-4 autoantibodies were identified in the patient.
  • Antibody titers decreased significantly after thymoma resection and immunotherapy.
  • This decrease correlated with the disappearance of the rippling phenotype and complete remission.

Implications:

  • MURC/Cavin-4 autoantibodies may be pathogenic in paraneoplastic iRMD associated with thymoma.
  • This finding suggests MURC/Cavin-4 autoantibodies as potential biomarkers and therapeutic targets in specific iRMD cases.
  • The study highlights the autoimmune connection between thymoma and iRMD beyond AChR antibodies.

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