进行性脑脊髓炎伴僵硬和肌阵挛：一种具有多种临床特征和抗体反应的综合征。
Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses.
机构信息
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
出版信息
Eur Neurol. 2013;69(5):257-62. doi: 10.1159/000342237. Epub 2013 Feb 20.
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.
背景/目的：更好地描述伴僵直和肌阵挛的进行性脑脊髓炎（PERM）综合征，并确定新的 PERM 表型。
方法
使用免疫印迹、基于细胞的测定、RIA、蛋白宏阵列和 ELISA 研究 PERM 患者的临床特征和抗体状态。
结果
两名幕上受累患者出现异常 PET 或 EEG 发现。一名患者被发现患有肾细胞癌，蛋白宏阵列显示 Ma3 抗体。另一名患有亮氨酸丰富、神经胶质瘤失活 1（LGI1）和谷氨酸脱羧酶（GAD）抗体的患者对免疫治疗有良好的反应。
结论
免疫特征的异质性表明 PERM 是由不同的发病机制引起的。对特征明确的神经元细胞表面抗原的血清阳性可能表明治疗反应良好。
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