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- Title
Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis.
- 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
- 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.
- Subjects
MYASTHENIA gravis; MOTOR neuron diseases; ENZYME-linked immunosorbent assay; PROTEIN-tyrosine kinases
- Publication
Journal of Neurology, 2023, Vol 270, Issue 3, p1478
- ISSN
0340-5354
- Publication type
Article
- DOI
10.1007/s00415-022-11458-4