Autoimmunity to gephyrin in Stiff-Man syndrome.


Journal Article

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 GABA(A) 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.

Full Text

Cited Authors

  • Butler, MH; Hayashi, A; Ohkoshi, N; Villmann, C; Becker, CM; Feng, G; De Camilli, P; Solimena, M

Published Date

  • May 2000

Published In

Volume / Issue

  • 26 / 2

Start / End Page

  • 307 - 312

PubMed ID

  • 10839351

Pubmed Central ID

  • 10839351

Electronic International Standard Serial Number (EISSN)

  • 1097-4199

International Standard Serial Number (ISSN)

  • 0896-6273

Digital Object Identifier (DOI)

  • 10.1016/s0896-6273(00)81165-4


  • eng