ABSTRACT

Periodic sharp wave complexes (PSWCs), identified using electroencephalography, are observed in less than half of patients with the methionine homozygosity type 2 cortical (MM2c) form of sporadic Creutzfeldt-Jakob disease (sCJD), and only at a later stage of the disease. In this study, we identified early and specific markers on the electroencephalograms (EEGs) of patients with MM2c-sCJD. We retrospectively investigated the clinical records, EEGs, and magnetic resonance imaging (MRI) scans of patients diagnosed with sCJD and compared the EEG findings of MM2c-sCJD and MM1/classic sCJD groups. The records of six patients with MM2c-sCJD and eight with MM1/classic sCJD were included. The median ages of onset in the MM2c- and MM1/classic sCJD groups were 75.0 (range, 60–83) and 72.5 (range, 51–74) years, respectively, and the average durations between disease onset and the first EEG were 9.17 (range, 4–15) and 1.88 (range, 1–4) months, respectively. Focal sharp waves and/or focal spike-and-wave complexes in the brain regions corresponding with cortical hyperintensities on MRI scans were identified on the EEGs of patients with MM2c-sCJD in the early stages of disease progression. In contrast, EEGs of patients in the early stages of MM1/classic sCJD showed lateralized or generalized diffuse sharp waves and spike-and-wave complexes, which were not limited to cortical hyperintensities identified with MRI scans. Our findings indicate that focal sharp waves and/or focal spike-and-wave complexes on the EEGs of patients in the early phase of MM2c-sCJD are characteristic of the disease, suggesting the possible usefulness of this characteristic for early diagnosis.

摘要

使用脑电图识别的周期性尖波复合体 (PSWC) 在少于一半的散发性克雅氏病 (sCJD) 甲硫氨酸纯合型 2 型皮层 (MM2c) 患者中观察到，并且仅在疾病的后期阶段观察到. 在这项研究中，我们确定了 MM2c-sCJD 患者脑电图 (EEG) 上的早期和特异性标志物。我们回顾性研究了诊断为 sCJD 的患者的临床记录、脑电图和磁共振成像 (MRI) 扫描，并比较了 MM2c-sCJD 和 MM1/经典 sCJD 组的脑电图结果。包括 6 名 MM2c-sCJD 患者和 8 名 MM1/经典 sCJD 患者的记录。MM2c- 和 MM1/经典 sCJD 组的中位发病年龄分别为 75.0（范围，60-83）和 72.5（范围，51-74）岁，发病和第一次脑电图之间的平均持续时间分别为 9.17（范围，4-15）和 1.88（范围，1-4）个月。在疾病进展的早期阶段，在 MM2c-sCJD 患者的 EEG 上发现了与 MRI 扫描中皮质高信号相对应的大脑区域中的局灶性尖波和/或局灶性棘波复合体。相比之下，MM1/经典 sCJD 早期患者的脑电图显示侧化或全身弥漫性锐波和棘波复合体，这不仅限于 MRI 扫描识别的皮质高信号。我们的研究结果表明，MM2c-sCJD 早期患者 EEG 上的局灶性尖波和/或局灶性棘波复合体是该疾病的特征，表明该特征可能对早期诊断有用。