Autoantibodies against glycine-associated synaptic proteins in stiff-person syndrome

Abstract

Background: Autoantibodies against the postsynaptic glycine receptor were recently reported in patients with variants of stiff-person syndrome (SPS). The glycine receptor was presumed an autoantibody target because several mutations in its two subunits are associated with hereditary hyperekplexia, which in some instances resembles SPS. In a cohort of patients with SPS and related movement disorders, we report autoantibodies against two further proteins of inhibitory glycinergic synapses, glycine receptor-clustering gephyrin and presynaptic glycine transporter 2 (GlyT2/SLC6A5).