Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis

Background We aimed to evaluate the diagnostic accuracy of enzyme-linked immunosorbent assay (ELISA) for anti-muscle specific tyrosine kinase (MuSK) antibody (Ab) in a large cohort of anti-acetylcholine receptor (AChR) Ab-negative generalized myasthenia gravis (MG), and also to investigate clinical...

Full description

Saved in:
Bibliographic Details
Published in:Journal of neurology 2023-03, Vol.270 (3), p.1478-1486
Main Authors: Kwon, Young Nam, Woodhall, Mark, Sung, Jung-Joon, Kim, Kwang-Kuk, Lim, Young-Min, Kim, Hyunjin, Kim, Jee-Eun, Baek, Seol-Hee, Kim, Byung-Jo, Park, Jin-Sung, Seok, Hung Youl, Kim, Dae-Seong, Kwon, Ohyun, Park, Kee Hong, Sohn, Eunhee, Bae, Jong Seok, Yoon, Byung-Nam, Kim, Nam-Hee, Ahn, Suk-Won, Choi, Kyomin, Oh, Jeeyoung, Park, Hyung Jun, Shin, Kyong Jin, Lee, Sanggon, Park, Jinseok, Kim, Seung Hyun, Seok, Jung Im, Bae, Dae Woong, An, Jae Young, Joo, In Soo, Choi, Seok-Jin, Nam, Tai-Seung, Kim, Sunyoung, Park, Ki-Jong, Kwon, Ki-Han, Waters, Patrick, Hong, Yoon-Ho
Format: Article
Language:English
Subjects:
Acetylcholine receptors
Autoantibodies
Differential diagnosis
Enzyme-Linked Immunosorbent Assay
Humans
Kinases
Medicine
Medicine & Public Health
Motor neuron diseases
MUSK protein
Myasthenia
Myasthenia Gravis
Neurology
Neuromuscular junctions
Neuroradiology
Neurosciences
Original Communication
Protein-tyrosine kinase
Receptor Protein-Tyrosine Kinases
Receptors, Cholinergic
Retrospective Studies
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background We aimed to evaluate the diagnostic accuracy of enzyme-linked immunosorbent assay (ELISA) for anti-muscle specific tyrosine kinase (MuSK) antibody (Ab) in a large cohort of anti-acetylcholine receptor (AChR) Ab-negative generalized myasthenia gravis (MG), and also to investigate clinical contexts for the diagnosis of MuSK MG. Methods A retrospective study of 160 patients with a clinical suspicion of AChR Ab-negative generalized MG was performed. The serum samples were tested for anti-clustered AChR Ab by cell-based assay (CBA), anti-MuSK Ab by ELISA, CBA and/or radioimmunoprecipitation assay (RIPA). Clinical data were compared between anti-MuSK Ab-positive MG and double seronegative (AChR and MuSK) MG groups. Results After excluding non-MG and clustered AChR Ab-positive patients, we identified 89 patients as a cohort of AChR Ab-negative generalized MG. Anti-MuSK Ab was positive by ELISA in 22 (24.7%) patients. While CBA identified five additional anti-MuSK Ab-positive patients, the results of ELISA were mostly consistent with CBA and RIPA with Cohen’s kappa of 0.80 and 0.90, respectively ( p  
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-022-11458-4