Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Neuroimage Clin. 2022;35:103086. doi: 10.1016/j.nicl.2022.103086. Epub 2022 Jun 18.
Insomnia and thalamic involvement were frequently reported in patients with genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutations, suggesting E200K might have discrepancy with typical sporadic CJD (sCJD). The study aimed to explore the clinical and neuroimage characteristics of genetic E200K CJD patients by comprehensive neuroimage analysis.
Six patients with gCJD carried E200K mutation on Prion Protein (PRNP) gene, 13 patients with sporadic CJD, and 22 age- and sex-matched normal controls were enrolled in the study. All participants completed a hybrid positron emission tomography/magnetic resonance imaging (PET/MRI) examination. Signal intensity on diffusion-weighted imaging (DWI) and metabolism on PET were visually rating analyzed, statistical parameter mapping analysis was performed on PET and 3D-T1 images. Clinical and imaging characteristics were compared between the E200K, sCJD, and control groups.
There was no group difference in age or gender among the E200K, sCJD, and control groups. Insomnia was a primary complaint in patients with E200K gCJD (4/2 versus 1/12, p = 0.007). Hyperintensity on DWI and hypometabolism on PET of the thalamus were observed during visual rating analysis of images in patients with E200K gCJD. Gray matter atrophy (uncorrected p < 0.001) and hypometabolism (uncorrected p < 0.001) of the thalamus were more pronounced in patients with E200K gCJD.
The clinical and imaging characteristics of patients with gCJD with PRNP E200K mutations manifested as a thalamic-insomnia phenotype. PET is a sensitive approach to help identify the functional changes in the thalamus in prion disease.
携带 E200K 突变的遗传型克雅氏病（gCJD）患者常出现失眠和丘脑受累，这表明 E200K 可能与典型散发性克雅氏病（sCJD）存在差异。本研究旨在通过综合神经影像分析来探讨遗传型 E200K CJD 患者的临床和神经影像特征。
本研究纳入了 6 例携带 PRNP 基因 E200K 突变的 gCJD 患者、13 例 sCJD 患者和 22 名年龄和性别匹配的正常对照者。所有参与者均完成了正电子发射断层扫描/磁共振成像（PET/MRI）检查。通过视觉评分分析评估弥散加权成像（DWI）上的信号强度和 PET 上的代谢情况，对 PET 和 3D-T1 图像进行统计参数映射分析。比较 E200K、sCJD 和对照组之间的临床和影像特征。
E200K、sCJD 和对照组之间在年龄或性别上无组间差异。E200K gCJD 患者的主要主诉为失眠（4/2 与 1/12，p=0.007）。在 E200K gCJD 患者的图像视觉评分分析中，观察到 DWI 上的高信号和 PET 上的丘脑代谢低下。未经校正的丘脑灰质萎缩（p<0.001）和代谢低下（p<0.001）在 E200K gCJD 患者中更为明显。
携带 PRNP E200K 突变的 gCJD 患者的临床和影像特征表现为丘脑-失眠表型。PET 是一种敏感的方法，可以帮助识别朊病毒病中丘脑的功能变化。
