Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses.

Shugaiv E., Leite M. I. , Sehitoglu E., Woodhall M., Cavus F., Waters P., ...Daha Fazla

European neurology, cilt.69, ss.257-62, 2013 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 69 Konu: 5
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1159/000342237
  • Dergi Adı: European neurology
  • Sayfa Sayıları: ss.257-62


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 (C) 2013 S. Karger AG, Basel