Autoantibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome

N Engl J Med. 1990 May 31;322(22):1555-60. doi: 10.1056/NEJM199005313222202.

Abstract

Stiff-man syndrome is a rare disorder of the central nervous system of unknown pathogenesis. We have previously reported the presence of autoantibodies against glutamic acid decarboxylase (GAD) in a patient with stiff-man syndrome, epilepsy, and insulin-dependent diabetes mellitus. GAD is an enzyme selectively concentrated in neurons secreting the neurotransmitter gamma-aminobutyric acid (GABA) and in pancreatic beta cells. We subsequently observed autoantibodies to GABA-ergic neurons in 20 of 33 patients with stiff-man syndrome. GAD was the principal autoantigen. In the group of patients positive for autoantibodies against GABA-ergic neurons, there was a striking association with organ-specific autoimmune diseases, primarily insulin-dependent diabetes mellitus. These findings support the hypothesis that stiff-man syndrome is an autoimmune disease and suggest that GAD is the primary autoantigen involved in stiff-man syndrome and the associated insulin-dependent diabetes mellitus. Our findings also indicate that autoantibodies directed against GABA-ergic neurons are a useful marker in the diagnosis of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantibodies / analysis*
  • Autoantigens / immunology
  • Autoimmune Diseases
  • Brain / immunology
  • Central Nervous System Diseases / diagnosis
  • Central Nervous System Diseases / immunology*
  • Cerebrospinal Fluid / immunology
  • Female
  • Glutamate Decarboxylase / immunology
  • Humans
  • Immunohistochemistry
  • Islets of Langerhans / immunology*
  • Male
  • Muscle Rigidity / immunology
  • Neurons / immunology*
  • Neurons / metabolism
  • Spasm / immunology
  • gamma-Aminobutyric Acid / metabolism*

Substances

  • Autoantibodies
  • Autoantigens
  • gamma-Aminobutyric Acid
  • Glutamate Decarboxylase