Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses.
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 a...
| Glavni autori: | , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Jezik: | English |
| Izdano: |
2013
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| _version_ | 1826285110669869056 |
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| author | Shugaiv, E Leite, M Şehitoğlu, E Woodhall, M Çavuş, F Waters, P İçöz, S Birişik, Ö Uğurel, E Ulusoy, C Kürtüncü, M Vural, B Vincent, A Akman-Demir, G Tüzün, E |
| author_facet | Shugaiv, E Leite, M Şehitoğlu, E Woodhall, M Çavuş, F Waters, P İçöz, S Birişik, Ö Uğurel, E Ulusoy, C Kürtüncü, M Vural, B Vincent, A Akman-Demir, G Tüzün, E |
| author_sort | Shugaiv, E |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-07T01:23:57Z |
| format | Journal article |
| id | oxford-uuid:91508fc7-dc26-4433-ad34-b0d2ffbac848 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T01:23:57Z |
| publishDate | 2013 |
| record_format | dspace |
| spelling | oxford-uuid:91508fc7-dc26-4433-ad34-b0d2ffbac8482022-03-26T23:17:56ZProgressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:91508fc7-dc26-4433-ad34-b0d2ffbac848EnglishSymplectic Elements at Oxford2013Shugaiv, ELeite, MŞehitoğlu, EWoodhall, MÇavuş, FWaters, Pİçöz, SBirişik, ÖUğurel, EUlusoy, CKürtüncü, MVural, BVincent, AAkman-Demir, GTüzün, E 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. |
| spellingShingle | Shugaiv, E Leite, M Şehitoğlu, E Woodhall, M Çavuş, F Waters, P İçöz, S Birişik, Ö Uğurel, E Ulusoy, C Kürtüncü, M Vural, B Vincent, A Akman-Demir, G Tüzün, E Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses. |
| title | Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses. |
| title_full | Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses. |
| title_fullStr | Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses. |
| title_full_unstemmed | Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses. |
| title_short | Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses. |
| title_sort | progressive encephalomyelitis with rigidity and myoclonus a syndrome with diverse clinical features and antibody responses |
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