Clinically disparate stiff-person syndrome with GAD65 autoantibody in a father and daughter

Neurology. 2003 Nov 11;61(9):1291-3. doi: 10.1212/01.wnl.0000092016.98256.21.

Abstract

Stiff-person syndrome (SPS) is a sporadic autoimmune disorder characterized by muscle stiffness with painful spasms and usually a high level of GAD65 antibody. The authors report familial SPS associated with GAD65 antibody. The clinical presentations were disparate; the father had an appendicular form of SPS and the daughter's axial SPS presented with episodic opisthotonos.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Autoantibodies / blood*
  • Electromyography
  • Female
  • Genetic Predisposition to Disease
  • Glutamate Decarboxylase / immunology*
  • Humans
  • Infant
  • Infant, Newborn
  • Isoenzymes / immunology*
  • Male
  • Maternal-Fetal Exchange / immunology
  • Middle Aged
  • Pedigree
  • Pregnancy
  • Stiff-Person Syndrome* / diagnosis
  • Stiff-Person Syndrome* / genetics
  • Stiff-Person Syndrome* / immunology

Substances

  • Autoantibodies
  • Isoenzymes
  • Glutamate Decarboxylase
  • glutamate decarboxylase 2