Glycine Receptor Autoantibodies Impair Receptor Function and Induce Motor Dysfunction.
Vera RauschenbergerNiels von WardenburgNatascha SchaeferKazutoyo OginoHiromi HirataChristina LillesaarChristoph J KluckHans-Michael MeinckMarc BorrmannAndreas WeishauptKathrin DopplerJonathan WickelChristian GeisClaudia SommerCarmen VillmannPublished in: Annals of neurology (2020)
Autoantibodies against the extracellular domain mediate alterations of glycine receptor physiology. Moreover, our in vivo data demonstrate that the autoantibodies are a direct cause of the disease, because the transfer of human glycine receptor autoantibodies to zebrafish larvae generated impaired escape behavior in the animal model compatible with abnormal startle response in stiff-person syndrome or progressive encephalitis with rigidity and myoclonus patients. ANN NEUROL 2020;88:544-561.