Department of Neurology, The Sagol Neuroscience Center, and Chaim Sheba Medical Center affiliated to the Sackler Faculty of Medicine, Tel-Aviv University, 52621, Tel-Hashomer, Israel.
J Neurol. 2012 Mar;259(3):491-6. doi: 10.1007/s00415-011-6208-5. Epub 2011 Aug 12.
The aim of the study was to examine the relationship between EEG abnormalities and the pattern of MRI changes in familial Creutzfeldt-Jakob Disease (fCJD) patients with E200K mutation. As part of a controlled, prospective study, 13 E200K fCJD patients underwent comprehensive evaluations, with EEG and an extensive MRI protocol that included one of the most prion-disease sensitive sequences, diffusion-weighted imaging (DWI). The relationship between EEG abnormalities and the pattern of DWI hyperintensities was examined. EEG demonstrated the classical CJD finding of PSWC (periodic sharp wave complexes) in five patients (38%) while in eight patients (62%) the EEG showed only slow activity. Six patients showed the typical cortical changes on MRI, and in five of them (83%) concordance between the MRI and the EEG was found. Five patients had isolated basal ganglia involvement per MRI, and in two of them (40%) concordance between the MRI and the EEG laterality was found. In the remaining two patients MRI did not show any changes suggesting CJD and EEG showed focal slow activity. The EEG of our E200K fCJD patients appears similar to that of the largest prion disease patient group, sporadic CJD (sCJD). EEG abnormalities in E200K fCJD appear to correlate mainly with cortical pathology, as revealed by DWI, rather than basal ganglia pathology. The observation that PSWC abnormalities reflect cortical rather than basal ganglia pathology is significant with respect to theories of the origins of EEG abnormalities in prion disease.
这项研究的目的是探讨 E200K 突变的家族性克雅氏病（fCJD）患者脑电图异常与 MRI 改变模式之间的关系。作为一项对照前瞻性研究的一部分，13 例 E200K fCJD 患者接受了全面评估，包括脑电图和广泛的 MRI 方案，其中包括最敏感的朊病毒疾病序列之一，弥散加权成像（DWI）。研究了脑电图异常与 DWI 高信号模式之间的关系。脑电图在 5 例患者（38%）中显示出典型的 CJD 发现 PSWC（周期性尖波复合物），而在 8 例患者（62%）中，脑电图仅显示缓慢活动。6 例患者在 MRI 上显示出典型的皮质变化，其中 5 例（83%）在 MRI 和脑电图之间发现了一致性。5 例患者的 MRI 显示孤立的基底节受累，其中 2 例（40%）在 MRI 和脑电图的侧化之间发现了一致性。在其余 2 例患者中，MRI 未显示任何提示 CJD 的变化，脑电图显示局灶性缓慢活动。我们的 E200K fCJD 患者的脑电图似乎与最大的朊病毒病患者组散发性克雅氏病（sCJD）相似。E200K fCJD 的脑电图异常似乎主要与皮质病理学相关，如 DWI 所示，而不是基底节病理学。脑电图异常起源于朊病毒病的理论，PSWC 异常反映皮质而不是基底节病理学的观察结果具有重要意义。
