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.
Autoantibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome / M. Solimena, F. Folli, R. Aparisi, G. Pozza, P. De Camilli. - In: NEW ENGLAND JOURNAL OF MEDICINE. - ISSN 0028-4793. - 322:22(1990), pp. 1555-1560.
|Titolo:||Autoantibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome|
|Parole Chiave:||islet of Langerhans, pancreas, gabaergic neurons, GAD, type 1 diabetes, polyendocrine syndrome, human, stiff person syndrome, stiff man syndrome, glutamic acid decarboxilase|
|Settore Scientifico Disciplinare:||Settore MED/09 - Medicina Interna|
|Data di pubblicazione:||1990|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1056/NEJM199005313222202|
|Appare nelle tipologie:||01 - Articolo su periodico|