Clinical spectrum of stiff person syndrome associated with glutamic acid decarboxylase antibodies

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Conference Proceeding

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Objective: The aim of this study was to examine the clinical characteristics and associated diagnosis of the SPS.

Background: Stiff person syndrome (SPS) is an immune-mediated neurological disorder that can cause rigidity of the axial and limb muscles. About 80% of patient with SPS have had high-titer antibodies against glutamic acid decarboxylase (GAD), and 15% have antibodies to glycine receptors.

Design/Methods: Retrospective chart review of patients with SPS and positive GAD antibody who were seen over 5 years was performed. Demographics, detailed clinical information, and diagnostic data were recorded. Coexisting autoimmune diseases and serologies were reviewed.

Results: Nine patients were included in this study, 7 women and 2 men. The median age at symptom onset was 47 years. Six patients had positive Gad antibody and 3 were negative. Primary diagnosis was stiff person syndrome (n=4), cerebellar ataxia (n=2), PERM (n=2) and sensory neuropathy/neuronopathy (n=1). Commonly associated antibodies were islet cell antibody and neuronal voltage-gated potassium channel. Type 1 diabetes, seizures, and thyroid disease were commonly associated with the diagnosis. Three patients had an EMG finding suggestive of SPS and two of these patients had negative GAD antibody.

Conclusions: Women are commonly affected by the disease. There is a phenotypic variation of the disease as previously reported in the literature. EMG is helpful in the diagnosis of negative GAD antibody patients where clinical suspicion for SPS is high.





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