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Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis
- Title
- Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis
- 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.
- Ewha Authors
- 김지은
- SCOPUS Author ID
- 김지은
- Issue Date
- 2023
- Journal Title
- Journal of Neurology
- ISSN
- 0340-5354
- Citation
- Journal of Neurology vol. 270, no. 3, pp. 1478 - 1486
- Keywords
- Anti-MuSK antibody; Cell-based assay; ELISA; Radioimmunoprecipitation assay; Seronegative myasthenia gravis
- Publisher
- Springer Science and Business Media Deutschland GmbH
- Indexed
- SCIE; SCOPUS
- Document Type
- Article
- 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).
- DOI
- 10.1007/s00415-022-11458-4
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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