Clinical pitfalls and serological diagnostics of MuSK myasthenia gravisopen access
- Authors
- Kwon, Y.N.; Woodhall, M.; Sung, J.-J.; Kim, K.-K.; Lim, Y.-M.; Kim, H.; Kim, J.-E.; Baek, S.-H.; Kim, B.-J.; Park, J.-S.; Seok, H.Y.; Kim, D.-S.; Kwon, O.; Park, K.H.; Sohn, E.; Bae, J.S.; Yoon, B.-N.; Kim, N.-H.; Ahn, S.-W.; Choi, K.; Oh, J.; Park, H.J.; Shin, K.J.; Lee, S.; Park, J.; Kim, S.H.; Seok, J.I.; Bae, D.W.; An, J.Y.; Joo, I.S.; Choi, S.-J.; Nam, T.-S.; Kim, S.; Park, K.-J.; Kwon, K.-H.; Waters, P.; Hong, Y.-H.
- Issue Date
- Mar-2023
- Publisher
- Springer Science and Business Media Deutschland GmbH
- Keywords
- Anti-MuSK antibody; Cell-based assay; ELISA; Radioimmunoprecipitation assay; Seronegative myasthenia gravis
- Citation
- Journal of Neurology, v.270, no.3, pp 1478 - 1486
- Pages
- 9
- Journal Title
- Journal of Neurology
- Volume
- 270
- Number
- 3
- Start Page
- 1478
- End Page
- 1486
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/71227
- DOI
- 10.1007/s00415-022-11458-4
- ISSN
- 0340-5354
1432-1459
- Abstract
- 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 < 0.001). The most frequent differential diagnosis was motor neuron disease particularly of bulbar onset which showed remarkably overlapping clinical and electrophysiological features with MuSK MG at presentation. Conclusion: While confirming the highest sensitivity of CBA for detecting anti-MuSK Ab, our results highlight the clinical pitfalls in making a diagnosis of MuSK MG and may support a diagnostic utility of MuSK-ELISA in clinical practice. © 2022, The Author(s).
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