Citations 1
Gephyrin Neurological Autoimmunity
Pantuliano, Maria Chiara , Arlt, Friederike A. , Arenson, N, Basuroski, Irena Dujmovic, Dubey, Divyanshu , Lesnick, Connie , Mills, John R., Pittock, Sean J. , Ζεκερίδου, Αναστασία , Lane, Michael , Pittock, S J , Lesnick, Connie E, Zekeridou, Anastasia , McKeon, Andrew , Arlt, Friederike Antonia , Dubey, Divyanshu , Mills, J R , McKeon, Andrew
Annals of Neurology | June 17, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown. While investigating unclassified synaptic IgGs mimicking amphiphysin‐IgG, we identified gephyrin‐IgG in 3 patients using human protein microarray. Gephyrin specificity was confirmed using confocal tissue‐based immunofluorescence assay, cell‐based assay, and Western blot. The 3 patients, all female, had: encephalitis (2) and myeloneuropathy and breast cancer (1). All had inflammatory cerebrospinal fluid and abnormal magnetic resonance imaging, and improved following immunotherapy. Gephyrin‐IgG is associated with a treatable autoimmune neurological disease, sometimes paraneoplastic. ANN NEUROL 2026