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Antibodies to clustered acetylcholine receptor: expanding the phenotype
Author(s) -
Devic P.,
Petiot P.,
Simonet T.,
Stojkovic T.,
Delmont E.,
Franques J.,
Magot A.,
Vial C.,
Lagrange E.,
Nicot A. S.,
Risson V.,
Eymard B.,
Schaeffer L.
Publication year - 2014
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.12270
Subject(s) - myasthenia gravis , medicine , thymoma , antibody , acetylcholine receptor , phenotype , immunofluorescence , immunology , population , cholinesterase , acetylcholine , receptor , gene , biology , genetics , environmental health
Background and purpose To provide a detailed phenotypical description of seronegative patients with generalized myasthenia gravis and antibodies to clustered acetylcholine receptors ( AC hRs) and to assess their frequency amongst a French seronegative generalized myasthenia gravis ( SNMG ) population. Methods A French SNMG database was created and the sera from the 37 patients included in it were analysed by immunofluorescence of cell‐based assays using cotransfection of AC hR subunit genes together with rapsyn to densely cluster the AC hRs. Results Sixteen per cent ( n = 6) of the SNMG patients were found to have antibodies to clustered AC hR. They presented either with early onset MG and thymic hyperplasia, late onset MG and thymic involution, or thymoma associated MG . They responded well to cholinesterase inhibitors and immunosuppressants. Conclusions Patients with antibodies to clustered AC hR account for a significant proportion of SNMG patients and resemble patients with AC hR antibodies detected by standard radio‐immunoprecipitation.