title: Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors: Erkingül
authors: E
authors: Shugaiv
authors: Maria Isabel
authors: MI
authors: Leite
authors: Elçin
authors: E
authors: Şehitoğlu
authors: Mark
authors: M
authors: Woodhall
authors: Filiz
authors: F
authors: Çavuş
authors: Patrick
authors: P
authors: Waters
authors: Sema
authors: S
authors: İçöz
authors: Ömer
authors: Ö
authors: Birişik
authors: Elif
authors: E
authors: Uğurel
authors: Canan
authors: C
authors: Ulusoy
authors: Murat
authors: M
authors: Kürtüncü
authors: Burçak
authors: B
authors: Vural
authors: Angela
authors: A
authors: Vincent
authors: Gulsen
authors: G
authors: Akman-Demir
authors: Erdem
authors: E
authors: Tüzün
mesh_terms: D000368:Aged; D001323:Autoantibodies / Q000097:blood*; D004679:Encephalomyelitis / Q000097:blood* / Q000150:complications* / Q000188:drug therapy; D004797:Enzyme-Linked Immunosorbent Assay; D005968:Glutamate Decarboxylase / Q000276:immunology; D057809:HEK293 Cells; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D047908:Intracellular Signaling Peptides and Proteins; D007473:Ion Channels / Q000276:immunology; D008297:Male; D008565:Membrane Proteins / Q000276:immunology; D008875:Middle Aged; D009127:Muscle Rigidity / Q000097:blood* / Q000150:complications* / Q000188:drug therapy; D009207:Myoclonus / Q000097:blood* / Q000150:complications* / Q000628:therapy; D009419:Nerve Tissue Proteins / Q000276:immunology; D040081:Protein Array Analysis; D011506:Proteins / Q000276:immunology; D014162:Transfection
chemical_list: D001323:Autoantibodies; C403049:CNTNAP2 protein, human; D007166:Immunosuppressive Agents; D047908:Intracellular Signaling Peptides and Proteins; D007473:Ion Channels; C116499:LGI1 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D011506:Proteins; D005968:Glutamate Decarboxylase