PMID- 26025053 OWN - NLM STAT- MEDLINE DCOM- 20150819 LR - 20150530 IS - 1872-8421 (Electronic) IS - 0165-5728 (Linking) VI - 284 DP - 2015 Jul 15 TI - MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study. PG - 10-7 LID - S0165-5728(15)00111-3 [pii] LID - 10.1016/j.jneuroim.2015.04.015 [doi] AB - Seronegative myasthenia gravis (MG) presents a serious gap in MG diagnosis and understanding. We applied a cell based assay (CBA) for the detection of muscle specific kinase (MuSK) antibodies undetectable by radioimmunoassay. We tested 633 triple-seronegative MG patients' sera from 13 countries, detecting 13% as positive. MuSK antibodies were found, at significantly lower frequencies, in 1.9% of healthy controls and 5.1% of other neuroimmune disease patients, including multiple sclerosis and neuromyelitis optica. The clinical data of the newly diagnosed MuSK-MG patients are presented. 27% of ocular seronegative patients were MuSK antibody positive. Moreover, 23% had thymic hyperplasia suggesting that thymic abnormalities are more common than believed. CI - Copyright (c) 2015 Elsevier B.V. All rights reserved. FAU - Tsonis, A I AU - Tsonis AI AD - Hellenic Pasteur Institute, Athens, Greece; University of Patras, Patras, Greece. FAU - Zisimopoulou, P AU - Zisimopoulou P AD - Hellenic Pasteur Institute, Athens, Greece. Electronic address: zisimopoulou@pasteur.gr. FAU - Lazaridis, K AU - Lazaridis K AD - Hellenic Pasteur Institute, Athens, Greece. FAU - Tzartos, J AU - Tzartos J AD - Hellenic Pasteur Institute, Athens, Greece. FAU - Matsigkou, E AU - Matsigkou E AD - Hellenic Pasteur Institute, Athens, Greece. FAU - Zouvelou, V AU - Zouvelou V AD - Neurology Department, Aeginition Hospital, Athens, Greece. FAU - Mantegazza, R AU - Mantegazza R AD - Neurological Institute "C. Besta", Milano, Italy. FAU - Antozzi, C AU - Antozzi C AD - Neurological Institute "C. Besta", Milano, Italy. FAU - Andreetta, F AU - Andreetta F AD - Neurological Institute "C. Besta", Milano, Italy. FAU - Evoli, A AU - Evoli A AD - Institute of Neurology, Catholic University, Rome, Italy. FAU - Deymeer, F AU - Deymeer F AD - Istanbul University, Istanbul, Turkey. FAU - Saruhan-Direskeneli, G AU - Saruhan-Direskeneli G AD - Istanbul University, Istanbul, Turkey. FAU - Durmus, H AU - Durmus H AD - Istanbul University, Istanbul, Turkey. FAU - Brenner, T AU - Brenner T AD - Hadassah Hebrew University Medical Center, Jerusalem, Israel. FAU - Vaknin, A AU - Vaknin A AD - Hadassah Hebrew University Medical Center, Jerusalem, Israel. FAU - Berrih-Aknin, S AU - Berrih-Aknin S AD - UPMC and INSERM, Paris, France. FAU - Behin, A AU - Behin A AD - UPMC and INSERM, Paris, France. FAU - Sharshar, T AU - Sharshar T AD - Raymond Poincare Hospital, Garches, France. FAU - De Baets, M AU - De Baets M AD - School for Mental Health and Neuroscience, Maastricht University, The Netherlands. FAU - Losen, M AU - Losen M AD - School for Mental Health and Neuroscience, Maastricht University, The Netherlands. FAU - Martinez-Martinez, P AU - Martinez-Martinez P AD - School for Mental Health and Neuroscience, Maastricht University, The Netherlands. FAU - Kleopa, K A AU - Kleopa KA AD - The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. FAU - Zamba-Papanicolaou, E AU - Zamba-Papanicolaou E AD - The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. FAU - Kyriakides, T AU - Kyriakides T AD - The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. FAU - Kostera-Pruszczyk, A AU - Kostera-Pruszczyk A AD - Department of Neurology, Medical University of Warsaw, Poland. FAU - Szczudlik, P AU - Szczudlik P AD - Department of Neurology, Medical University of Warsaw, Poland. FAU - Szyluk, B AU - Szyluk B AD - Department of Neurology, Medical University of Warsaw, Poland. FAU - Lavrnic, D AU - Lavrnic D AD - Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia. FAU - Basta, I AU - Basta I AD - Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia. FAU - Peric, S AU - Peric S AD - Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia. FAU - Tallaksen, C AU - Tallaksen C AD - Norway Department of Neurology, Ullevaal University Hospital, Oslo, Norway; Faculty of Medicine, Olso University, Norway. FAU - Maniaol, A AU - Maniaol A AD - Norway Department of Neurology, Ullevaal University Hospital, Oslo, Norway. FAU - Casasnovas Pons, C AU - Casasnovas Pons C AD - Bellvitge University Hospital, Barcelona, Spain. FAU - Pitha, J AU - Pitha J AD - Department of Neurology and Clinical Neuroscience Center, 1st Faculty of Medicine, Charles University and General Teaching Hospital, Prague, Czech Republic. FAU - Jakubikova, M AU - Jakubikova M AD - Department of Neurology and Clinical Neuroscience Center, 1st Faculty of Medicine, Charles University and General Teaching Hospital, Prague, Czech Republic. FAU - Hanisch, F AU - Hanisch F AD - Universitatsklinikum Halle, Germany. FAU - Tzartos, S J AU - Tzartos SJ AD - Hellenic Pasteur Institute, Athens, Greece; University of Patras, Patras, Greece; Tzartos NeuroDiagnostics, Athens, Greece. Electronic address: tzartos@pasteur.gr. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20150427 PL - Netherlands TA - J Neuroimmunol JT - Journal of neuroimmunology JID - 8109498 RN - 0 (Autoantibodies) RN - 0 (LDL-Receptor Related Proteins) RN - 0 (LRP4 protein, human) RN - 0 (Receptors, Cholinergic) RN - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases) SB - IM MH - Adult MH - Aged MH - Autoantibodies/*blood MH - Female MH - Flow Cytometry MH - Humans MH - International Cooperation MH - LDL-Receptor Related Proteins/immunology MH - Male MH - Middle Aged MH - Myasthenia Gravis/*blood/*diagnosis/pathology MH - Neuromyelitis Optica/diagnosis MH - Radioimmunoassay MH - Receptor Protein-Tyrosine Kinases/*immunology MH - Receptors, Cholinergic/immunology MH - Thymus Gland/pathology MH - Thymus Hyperplasia/diagnosis OTO - NOTNLM OT - Autoantibodies OT - Cell based assay OT - Diagnosis OT - MuSK OT - Myasthenia gravis EDAT- 2015/05/31 06:00 MHDA- 2015/08/20 06:00 CRDT- 2015/05/31 06:00 PHST- 2014/11/03 00:00 [received] PHST- 2015/04/21 00:00 [revised] PHST- 2015/04/24 00:00 [accepted] PHST- 2015/05/31 06:00 [entrez] PHST- 2015/05/31 06:00 [pubmed] PHST- 2015/08/20 06:00 [medline] AID - S0165-5728(15)00111-3 [pii] AID - 10.1016/j.jneuroim.2015.04.015 [doi] PST - ppublish SO - J Neuroimmunol. 2015 Jul 15;284:10-7. doi: 10.1016/j.jneuroim.2015.04.015. Epub 2015 Apr 27.