European neurology · 2013
Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Shugaiv Erkingül, Leite Maria Isabel, Şehitoğlu Elçin, Woodhall Mark, Çavuş Filiz, Waters Patrick, İçöz Sema, Birişik Ömer, Uğurel Elif, Ulusoy Canan, Kürtüncü Murat, Vural Burçak, Vincent Angela, Akman-Demir Gulsen, Tüzün Erdem
Аннотация
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.
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.
Предметные рубрики MeSH
AgedAutoantibodiesEncephalomyelitisEnzyme-Linked Immunosorbent AssayGlutamate DecarboxylaseHEK293 CellsHumansImmunosuppressive AgentsIntracellular Signaling Peptides and ProteinsIon ChannelsMaleMembrane ProteinsMiddle AgedMuscle RigidityMyoclonusNerve Tissue ProteinsProtein Array AnalysisProteinsTransfection