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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.

Original publication




Journal article


Eur Neurol

Publication Date





257 - 262


Aged, Autoantibodies, Encephalomyelitis, Enzyme-Linked Immunosorbent Assay, Glutamate Decarboxylase, HEK293 Cells, Humans, Immunosuppressive Agents, Ion Channels, Male, Membrane Proteins, Middle Aged, Muscle Rigidity, Myoclonus, Nerve Tissue Proteins, Protein Array Analysis, Proteins, Transfection