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., ...More

European neurology, vol.69, no.5, pp.257-62, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 69 Issue: 5
  • Publication Date: 2013
  • Doi Number: 10.1159/000342237
  • Journal Name: European neurology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.257-62
  • Keywords: Progressive encephalomyelitis with rigidity and myoclonus, Autoimmune encephalitis, Paraneoplastic, Protein macroarray, Antibody, Autoimmunity, LIMBIC ENCEPHALITIS, PROTEINS, DISEASES, GLYCINE
  • Istanbul University Affiliated: Yes


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