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

Michele Solimena, Franco Folli, Roxanne Aparisi, Guido Pozza, Pietro de Camilli

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529 Scopus citations


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).

Original languageEnglish (US)
Pages (from-to)1555-1560
Number of pages6
JournalNew England Journal of Medicine
Issue number22
StatePublished - May 31 1990

ASJC Scopus subject areas

  • Medicine(all)


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