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Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis

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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.
Author(s)
Young Nam KwonMark WoodhallJung-Joon SungKwang-Kuk KimYoung-Min LimHyunjin KimJee-Eun KimSeol-Hee BaekByung-Jo KimJin-Sung ParkHung Youl SeokDae-Seong KimOhyun KwonKee Hong ParkEunhee SohnJong Seok BaeByung-Nam YoonNam-Hee KimSuk-Won AhnKyomin ChoiJeeyoung OhHyung Jun ParkKyong Jin ShinSanggon LeeJinseok ParkSeung Hyun KimJung Im SeokDae Woong BaeJae Young AnIn Soo JooSeok-Jin ChoiTai-Seung NamSunyoung KimKi-Jong ParkKi-Han KwonPatrick WatersYoon-Ho Hong
Issued Date
2023
Type
Article
Keyword
Anti-MuSK antibodyCell-based assayELISARadioimmunoprecipitation assaySeronegative myasthenia gravis
DOI
10.1007/s00415-022-11458-4
URI
https://oak.ulsan.ac.kr/handle/2021.oak/16566
Publisher
JOURNAL OF NEUROLOGY
Language
영어
ISSN
0340-5354
Citation Volume
270
Citation Number
3
Citation Start Page
1478
Citation End Page
1486
Appears in Collections:
Medicine > Nursing
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