| Title: |
Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis |
| Authors: |
Kwon, YN; Woodhall, M; Sung, JJ; Kim, KK; Lim, YM; Kim, H; Kim, JE; Baek, SH; Kim, BJ; Park, JS; Seok, HY; Kim, DS; Kwon, O; Park, KH; Sohn, E; Bae, JS; Yoon, BN; Kim, NH; Ahn, SW; Choi, K; Oh, J; Park, HJ; Shin, KJ; Lee, S; Park, J; Kim, SH; Seok, JI; Bae, DW; An, JY; Joo, IS; Choi, SJ; Nam, TS; Kim, S; Park, KJ; Kwon, KH; Waters, P; Hong, YH |
| Contributors: |
100365; Joo, IS |
| Publication Year: |
2023 |
| Subject Terms: |
Autoantibodies; Enzyme-Linked Immunosorbent Assay; Humans; Myasthenia Gravis; Receptor Protein-Tyrosine Kinases; Receptors; Cholinergic; Retrospective Studies; Anti-MuSK antibody; Cell-based assay; ELISA; Radioimmunoprecipitation assay; Seronegative myasthenia gravis |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
J003405354; http://repository.ajou.ac.kr/handle/201003/25316; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971039 |
| DOI: |
10.1007/s00415-022-11458-4 |
| Availability: |
http://repository.ajou.ac.kr/handle/201003/25316; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9971039; https://doi.org/10.1007/s00415-022-11458-4 |
| Accession Number: |
edsbas.AECB4EB |
| Database: |
BASE |