Autoantibodies to Glutamic Acid Decarboxylase in a Patient with Stiff-Man Syndrome, Epilepsy, and Type I Diabetes Mellitus

M. Solimena, F. Folli, S. Denis-Donini, G. C. Comi, G. Pozza, P. de Camilli, A. M. Vicari

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429 Scopus citations

Abstract

Stiff-man syndrome is a rare disorder of the central nervous system consisting of progressive, fluctuating muscle rigidity with painful spasms. It is occasionally associated with endocrine disorders, including insulindependent diabetes, and with epilepsy. We investigated the possible existence of autoimmunity against the nervous system in a patient with stiff-man syndrome associated with epilepsy and Type I diabetes mellitus. Levels of IgG, which had an oligoclonal pattern, were elevated in the cerebrospinal fluid. The serum and the cerebrospinal fluid produced an identical, intense staining of all gray-matter regions when used to stain brain sections according to an indirect light-microscopical immunocytochemical procedure. The staining patterns were identical to those produced by antibodies to glutamic acid decarboxylase (the enzyme responsible for the synthesis of gamma-aminobutyric acid). A band comigrating with glutamic acid decarboxylase in sodium dodecyl sulfate–polyacrylamide gels appeared to be the only nervoustissue antigen recognized by cerebrospinal fluid antibodies, and the predominant antigen recognized by serum antibodies. These findings support the idea that an impairment of neuronal pathways that operate through gamma-aminobutyric acid is involved in the pathogenesis of stiffman syndrome, and they raise the possibility of an autoimmune pathogenesis. (N Engl J Med 1988; 318: 1012–20.) STIFF-MAN SYNDROME is a very rare disorder of the central nervous system, characterized by progressive and fluctuating muscle rigidity with superimposed painful spasms. The latter may occur spontaneously or be precipitated by sensory stimuli. The disease involves the muscles of the limbs, trunk, and neck, sometimes asymmetrically.1,2 The diagnosis is established by the finding of a characteristic electromyographic pattern indicating continuous normal motor-unit activity at rest. Such activity is abolished by sleep, general or spinal anesthesia, peripheral-nerve blockade, curare, and intravenous diazepam.2 The syndrome was first described by Moersch and Woltman in 1956,1 and several reports of sporadic cases have.

Original languageEnglish (US)
Pages (from-to)1012-1020
Number of pages9
JournalNew England Journal of Medicine
Volume318
Issue number16
DOIs
StatePublished - Apr 21 1988

ASJC Scopus subject areas

  • Medicine(all)

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