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

Autor:	Svahn J; From 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., Coudert L; From 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., Streichenberger N; From 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., Kraut A; From 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., Gravier-Dumonceau-Mazelier A; From 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., Rotard L; From 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., Calemard-Michel L; From 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., Menassa R; From 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., Errazuriz-Cerda E; From 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., Chalabreysse L; From 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., Osseni A; From 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., Vial C; From 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., Jomir L; From 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., Tronc F; From 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., Le Duy D; From 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., Bernard E; From 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., Gache V; From 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., Couté Y; From 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., Jacquemond V; From 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., Schaeffer L; From 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., Leblanc P; From 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. pascal.leblanc@univ-lyon1.fr.
Jazyk:	angličtina
Zdroj:	Neurology(R) neuroimmunology & neuroinflammation [Neurol Neuroimmunol Neuroinflamm] 2022 Dec 15; Vol. 10 (1). Date of Electronic Publication: 2022 Dec 15 (Print Publication: 2023).
DOI:	10.1212/NXI.0000000000200068
Abstrakt:	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. (Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
Databáze:	MEDLINE
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