Presynaptic neuromuscular transmission defect in the stiff person syndrome
نویسندگان
چکیده
BACKGROUND The stiff person syndrome (SPS) is a rare disorder characterized by muscular rigidity and stiffness. CASE PRESENTATIONS 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.
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P102: The Association of the Anti-GAD Antibodies to the Neurological Conditions
Glutamic acid decarboxylase (GAD) is an enzyme which converts the glutamic acid to the neurotransmitter gamma-amino butyric acid (GABA). GABA is an inhibitory neurotransmitter that inhibits or weakens the neuronal stimulations. Presynaptic GABAergic neurons in the central neurons system (CNS) and the cells in the islets of Langerhans in the pancreas generate GAD. There are two isoforms of GAD n...
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