Autoimmunity to gephyrin in Stiff-Man syndrome

Neuron. 2000 May;26(2):307-12. doi: 10.1016/s0896-6273(00)81165-4.

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 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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Autoantibodies / analysis
  • Autoimmunity*
  • CHO Cells
  • Carrier Proteins / immunology*
  • Cricetinae
  • Humans
  • Male
  • Mediastinal Neoplasms / complications
  • Membrane Proteins / immunology*
  • Middle Aged
  • Molecular Sequence Data
  • Stiff-Person Syndrome / complications
  • Stiff-Person Syndrome / immunology*
  • Stiff-Person Syndrome / physiopathology

Substances

  • Autoantibodies
  • Carrier Proteins
  • Membrane Proteins
  • gephyrin

Associated data

  • GENBANK/AJ272033