Progressive Encephalomyelitis with Rigidity and Myoclonus: A Syndrome with Diverse Clinical Features and Antibody Responses
Shugaiv E., Leite MI., 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.
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.