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- Erkingül Shugaiv, Maria Isabel Leite, Elçin Şehitoğlu, Mark Woodhall, Filiz Çavuş, Patrick Waters, Sema İçöz, Ömer Birişik, Elif Uğurel, Canan Ulusoy, Murat Kürtüncü, Burçak Vural, Angela Vincent, Gulsen Akman-Demir, and Erdem Tüzün.
- Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
- Eur. Neurol. 2013 Jan 1;69(5):257-62.
Background/AimsTo better characterize progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome and identify novel PERM phenotypes.MethodsThe clinical features and antibody status of PERM patients were investigated using immunoblots, cell-based assays, RIA, protein macroarray and ELISA.ResultsTwo 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.ConclusionThe 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.
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