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- W2117445820 abstract "Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) characterized by chronic rigidity, spasms, and autoimmunity directed against synaptic antigens, most often the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). In a subset of cases, SMS has an autoimmune paraneoplastic origin. We report here the identification of high-titer autoantibodies directed against gephyrin in a patient with clinical features of SMS and mediastinal cancer. Gephyrin is a cytosolic protein selectively concentrated at the postsynaptic membrane of inhibitory synapses, where it is associated with GABAA and glycine receptors. Our findings provide new evidence for a close link between autoimmunity directed against components of inhibitory synapses and neurological conditions characterized by chronic rigidity and spasms." @default.
- W2117445820 created "2016-06-24" @default.
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- W2117445820 date "2000-05-01" @default.
- W2117445820 modified "2023-10-17" @default.
- W2117445820 title "Autoimmunity to Gephyrin in Stiff-Man Syndrome" @default.
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- W2117445820 doi "https://doi.org/10.1016/s0896-6273(00)81165-4" @default.
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