[HTML][HTML] Autoantibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome
M Solimena, F Folli, R Aparisi, G Pozza… - New England Journal …, 1990 - Mass Medical Soc
New England Journal of Medicine, 1990•Mass Medical Soc
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 …
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 …
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. (N Engl J Med 1990; 322:1555–60.)
The New England Journal Of Medicine