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Cited 4 time in webofscience Cited 5 time in scopus
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Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis

Authors
Kwon, Young NamWoodhall, MarkSung, Jung-JoonKim, Kwang-KukLim, Young-MinKim, HyunjinKim, Jee-EunBaek, Seol-HeeKim, Byung-JoPark, Jin-SungSeok, Hung YoulKim, Dae-SeongKwon, OhyunPark, Kee HongSohn, EunheeBae, Jong SeokYoon, Byung-NamKim, Nam-HeeAhn, Suk-WonChoi, KyominOh, JeeyoungPark, Hyung JunShin, Kyong JinLee, SanggonPark, JinseokKim, Seung HyunSeok, Jung ImBae, Dae WoongAn, Jae YoungJoo, In SooChoi, Seok-JinNam, Tai-SeungKim, SunyoungPark, Ki-JongKwon, Ki-HanWaters, PatrickHong, Yoon-Ho
Issue Date
Mar-2023
Publisher
Springer
Keywords
Seronegative myasthenia gravis; Anti-MuSK antibody; ELISA; Cell-based assay; Radioimmunoprecipitation assay
Citation
Journal of Neurology, v.270, no.3, pp 1478 - 1486
Pages
9
Indexed
SCIE
SCOPUS
Journal Title
Journal of Neurology
Volume
270
Number
3
Start Page
1478
End Page
1486
URI
https://scholarworks.korea.ac.kr/kumedicine/handle/2021.sw.kumedicine/61915
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.
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Baek, Seol-Hee
Anam Hospital (Department of Neurology, Anam Hospital)
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