Abstract
Background/aims:
To better characterize progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome and identify novel PERM phenotypes.
Methods:
The clinical features and antibody status of PERM patients were investigated using immunoblots, cell-based assays, RIA, protein macroarray and ELISA.
Results:
Two patients with supratentorial involvement showed abnormal PET or EEG findings. One patient was discovered to have renal cell carcinoma, and protein macroarray revealed Ma3-antibodies. Another patient with leucine-rich, glioma-inactivated 1 (LGI1) and glutamic acid decarboxylase (GAD) antibodies showed a good response to immunotherapy.
Conclusion:
The heterogeneity of the immunological features suggests that PERM is caused by diverse pathogenic mechanisms. Seropositivity to well-characterized neuronal cell surface antigens might indicate a good treatment response.
Copyright © 2013 S. Karger AG, Basel.
MeSH terms
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Aged
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Autoantibodies / blood*
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Encephalomyelitis / blood*
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Encephalomyelitis / complications*
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Encephalomyelitis / drug therapy
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Enzyme-Linked Immunosorbent Assay
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Glutamate Decarboxylase / immunology
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HEK293 Cells
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Humans
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Immunosuppressive Agents / therapeutic use
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Intracellular Signaling Peptides and Proteins
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Ion Channels / immunology
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Male
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Membrane Proteins / immunology
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Middle Aged
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Muscle Rigidity / blood*
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Muscle Rigidity / complications*
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Muscle Rigidity / drug therapy
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Myoclonus / blood*
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Myoclonus / complications*
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Myoclonus / therapy
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Nerve Tissue Proteins / immunology
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Protein Array Analysis
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Proteins / immunology
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Transfection
Substances
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Autoantibodies
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CNTNAP2 protein, human
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Immunosuppressive Agents
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Intracellular Signaling Peptides and Proteins
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Ion Channels
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LGI1 protein, human
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Membrane Proteins
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Nerve Tissue Proteins
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Proteins
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Glutamate Decarboxylase
Supplementary concepts
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Progressive Encephalomyelitis with Rigidity