Original Communications

Journal of Neurology

, Volume 238, Issue 2, pp 91-96

First online:

Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome

  • Hiroshi MitsumotoAffiliated withDepartment of Neurology, The Cleveland Clinic Foundation
  • , Michael J. SchwartzmanAffiliated withDepartment of Neurology, The Cleveland Clinic Foundation
  • , Melinda L. EstesAffiliated withDepartment of Pathology, The Cleveland Clinic Foundation
  • , Samuel M. ChouAffiliated withDepartment of Pathology, The Cleveland Clinic Foundation
  • , Eugene F. La FranchiseAffiliated withDepartment of Neurology, The Cleveland Clinic Foundation
  • , Pietro De CamilliAffiliated withDepartment of Cell Biology, Yale University Medical School
  • , Michele SolimenaAffiliated withDepartment of Cell Biology, Yale University Medical School

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Summary

Two women with typical stiff-man syndrome (SMS) developed increasingly frequent attacks of muscle spasms with severe paroxysmal autonomic dysfunctions such as transient hyperpyrexia, diaphoresis, tachypnea, tachycardia, pupillary dilation, and arterial hypertension. Autoantibodies to GABA-ergic neurons were identified in the serum of both patients and in the cerebrospinal fluid of one. Both died suddenly and unexpectedly. General autopsy did not reveal the cause of death. Neuropathological studies revealed perivascular gliosis in the spinal cord and brain stem of one patient and lymphocytic perivascular infiltration in the spinal cord, brain stem, and basal ganglia of the other. The occurrence of a chronic inflammatory reaction in one of the two patients supports the idea that an autoimmune disease against GABA-ergic neurons may be involved in SMS. A review of the literature indicates that functional impairment in SMS is severe and prognosis is unpredictable because of the potential for sudden and unexpected death. Both muscular abnormalities and autonomic dysfunctions may result from autoimmunity directed against GABA-ergic neurons.

Key words

Stiff-man syndrome Autoimmune disease γ-Aminobutyric acid Autonomic dysfunction Sudden death