title: Presynaptic neuromuscular transmission defect in the stiff person syndrome.
abstract: BACKGROUND
  The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness.
  
  
  METHODS
  We describe an SPS patient presenting with longstanding fatigue and electrophysiological evidence of presynaptic neuromuscular transmission defect, who responded to administration of pyridostigmine. In contrast, no electrophysiolgical evidence of neuromuscular transmission defect was demonstrated in 2 other SPS patients without fatigue symptoms.
  
  
  CONCLUSIONS
  Our findings suggest that glutamic acid decarboxylase (GAD) antibodies may play a role in presynaptic neuromuscular transmission defect of SPS patients with fatigue.
authors.affiliation: Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Outram Road, Academia Level 4, Singapore, 169608, Singapore. lo.yew.long@singhealth.com.sg.|Duke-NUS Graduate Medical School, Singapore, Singapore. lo.yew.long@singhealth.com.sg.
authors.forename: Y L
authors.initials: YL
authors.lastname: Lo
authors.affiliation: Department of Neurology, Singapore General Hospital, Singapore, Singapore.
authors.forename: Y E
authors.initials: YE
authors.lastname: Tan
mesh_terms: D001323:Autoantibodies / Q000097:blood*; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D005221:Fatigue / Q000188:drug therapy* / Q000209:etiology; D005260:Female; D005968:Glutamate Decarboxylase / Q000276:immunology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009469:Neuromuscular Junction / Q000502:physiology*; D011729:Pyridostigmine Bromide / Q000627:therapeutic use; D035583:Rare Diseases; D016750:Stiff-Person Syndrome / Q000150:complications / Q000188:drug therapy*; D009435:Synaptic Transmission / Q000276:immunology*
chemical_list: D001323:Autoantibodies; D002800:Cholinesterase Inhibitors; D005968:Glutamate Decarboxylase; D011729:Pyridostigmine Bromide
keywords: Fatigue; Neuromuscular transmission; Presynaptic; Stiff person syndrome