Abstract
We report five of 38 patients with stiff person syndrome (SPS), who also had cerebellar disease, gait ataxia, dysarthria, and oculomotor dysfunction (SPS-Cer). Cerebellar manifestations either preceded SPS or occurred concurrently. Brain MRI was normal. The intrathecal production of glutamic acid decarboxylase antibodies was elevated. Gamma-aminobutyric acid-enhancing drugs and immunotherapies improved only the stiffness. SPS-Cer is a distinct subset of SPS causing a more severe and complex clinical phenotype.
Publication types
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Case Reports
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Comparative Study
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Research Support, N.I.H., Intramural
MeSH terms
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Adult
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Aged
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Anticonvulsants / therapeutic use
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Autoantibodies / metabolism*
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Cerebellar Diseases / complications*
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Cerebellar Diseases / drug therapy
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Cerebellar Diseases / metabolism
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Diazepam / therapeutic use
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Female
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Glutamate Decarboxylase / immunology*
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Humans
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Magnetic Resonance Imaging / methods
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Male
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Middle Aged
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Stiff-Person Syndrome / complications*
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Stiff-Person Syndrome / drug therapy
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Stiff-Person Syndrome / metabolism
Substances
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Anticonvulsants
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Autoantibodies
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Glutamate Decarboxylase
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Diazepam