Abstract
Acquired myasthenia gravis (MG) is a prototype autoimmune disease of the neuromuscular junction, caused in most patients by autoantibodies to the muscle nicotinic acetylcholine receptor (AChR). There seem to be ethnic and regional differences in the frequency and clinical features of MG seronegative for the AChR antibody. This study aimed to describe the autoantibody profiles and clinical features of Korean patients with generalized MG seronegative for the AChR antibody. A total of 62 patients with a high index of clinical suspicion of seronegative generalized MG were identified from 18 centers, and we examined their sera for antibodies to clustered AChR, muscle-specific tyrosine kinase (MuSK), and low-density lipoprotein receptor-related protein 4 (LRP4) by cell-based assays (CBA) and to MuSK by radioimmunoprecipitation assay (RIPA). We also included 8 patients with ocular MG, 3 with Lambert-Eaton myasthenic syndrome, 5 with motor neuron disease, and 9 with other diagnoses as comparators for the serological testing. Antibodies were identified in 25/62 (40.3%) patients: 7 had antibodies to clustered AChR, 17 to MuSK, and 2 to LRP4. Three patients were double seropositive: 1 for MuSK and LRP4, and 2 for MuSK and clustered AChR. The patients with MuSK antibodies were mostly female (88.2%) and characterized by predominantly bulbar involvement (70%) and frequent myasthenic crises (58.3%). The patients with antibodies to clustered AChR, including 2 with ocular MG, tended to have a mild phenotype and good prognosis.
Highlights
Acquired myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction, characterized by exertional weakness and fatigability [1]. It is caused in most patients by autoantibodies to the muscle nicotinic acetylcholine receptor (AChR), but the antibodies are not detected on conventional radioimmunoprecipitation assay (RIPA) in 20% of patients with generalized MG and 50% with ocular MG [2]
Of the 62 patients with generalized MG, muscle-specific tyrosine kinase (MuSK) antibodies were positive in 17 patients (27%) on cell-based assay (CBA) and 13 patients (21%) on RIPA
We investigated the autoantibody profiles and clinical features of 70 Korean patients with MG seronegative for AChR on conventional assay
Summary
Acquired myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction, characterized by exertional weakness and fatigability [1]. It is caused in most patients by autoantibodies to the muscle nicotinic acetylcholine receptor (AChR), but the antibodies are not detected on conventional radioimmunoprecipitation assay (RIPA) in 20% of patients with generalized MG and 50% with ocular MG [2]. Autoantibodies to low-density lipoprotein receptor-related protein 4 (LRP4) were identified in 2–27% of patients without AChR and MuSK antibodies [9,10], and an animal model suggested a pathogenic role for these antibodies [11]
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