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. 2015 Jul 15:284:10-7.
doi: 10.1016/j.jneuroim.2015.04.015. Epub 2015 Apr 27.

MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study

A I Tsonis  1 , P Zisimopoulou  2 , K Lazaridis  3 , J Tzartos  3 , E Matsigkou  3 , V Zouvelou  4 , R Mantegazza  5 , C Antozzi  5 , F Andreetta  5 , A Evoli  6 , F Deymeer  7 , G Saruhan-Direskeneli  7 , H Durmus  7 , T Brenner  8 , A Vaknin  8 , S Berrih-Aknin  9 , A Behin  9 , T Sharshar  10 , M De Baets  11 , M Losen  11 , P Martinez-Martinez  11 , K A Kleopa  12 , E Zamba-Papanicolaou  12 , T Kyriakides  12 , A Kostera-Pruszczyk  13 , P Szczudlik  13 , B Szyluk  13 , D Lavrnic  14 , I Basta  14 , S Peric  14 , C Tallaksen  15 , A Maniaol  16 , C Casasnovas Pons  17 , J Pitha  18 , M Jakubíkova  18 , F Hanisch  19 , S J Tzartos  20
Affiliations

MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study

A I Tsonis et al. J Neuroimmunol. .

Abstract

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.

Keywords: Autoantibodies; Cell based assay; Diagnosis; MuSK; Myasthenia gravis.

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