Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer

Intern Med. 2001 Sep;40(9):968-71. doi: 10.2169/internalmedicine.40.968.

Abstract

Glutamic acid decarboxylase (GAD) is the main target of humoral autoimmunity in patients with insulin-dependent diabetes mellitus (IDDM) and stiff-person syndrome. We reviewed the case of a 46-year-old woman who had cerebellar ataxia before getting stiff-person syndrome and IDDM with high anti-GAD autoantibody titers. This was a rare case in which there were both the clinical symptoms of stiff-person syndrome and cerebellar ataxia. In western blot analysis her serum reacted with 65-kDa proteins from rat cerebellum, cerebral cortex, and spinal cord. Autoantibodies to GAD may cause functional impairment of gamma-aminobutyric acid (GABA) neurons in the spinal cord as well as in the cerebellum.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Autoantibodies / blood*
  • Blotting, Western
  • Cerebellar Ataxia / complications*
  • Cerebellar Ataxia / diagnosis
  • Cerebellar Ataxia / enzymology
  • Cerebellar Ataxia / immunology
  • Diabetes Mellitus, Type 1 / complications*
  • Diabetes Mellitus, Type 1 / enzymology
  • Diabetes Mellitus, Type 1 / immunology
  • Electromyography
  • Female
  • Glutamate Decarboxylase / immunology*
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Stiff-Person Syndrome / complications*
  • Stiff-Person Syndrome / diagnosis
  • Stiff-Person Syndrome / enzymology
  • Stiff-Person Syndrome / immunology

Substances

  • Autoantibodies
  • Glutamate Decarboxylase