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.
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.
Authors: Rodi Zutt; Martje E van Egmond; Jan Willem Elting; Peter Jan van Laar; Oebele F Brouwer; Deborah A Sival; Hubertus P Kremer; Tom J de Koning; Marina A Tijssen Journal: Nat Rev Neurol Date: 2015-11-10 Impact factor: 42.937
Authors: Florian Wegner; Florian Wilke; Peter Raab; Said Ben Tayeb; Anna-Lena Boeck; Cathleen Haense; Corinna Trebst; Elke Voss; Christoph Schrader; Frank Logemann; Jörg Ahrens; Andreas Leffler; Rea Rodriguez-Raecke; Reinhard Dengler; Lilli Geworski; Frank M Bengel; Georg Berding; Martin Stangel; Elham Nabavi Journal: BMC Neurol Date: 2014-06-20 Impact factor: 2.474