Department of Neurology, Washington University School of Medicine, Box 8111, 660 South Euclid Avenue, Saint Louis, MO 63110, USA.
J Neurol. 2013 Feb;260(2):498-506. doi: 10.1007/s00415-012-6664-6. Epub 2012 Sep 12.
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive dementia (RPD) that can be difficult to identify antemortem, with definitive diagnosis requiring tissue confirmation. We describe the clinical, magnetic resonance imaging (MRI), cerebrospinal fluid (CSF), and electroencephalogram (EEG) measures of a small cohort of 30 patients evaluated for RPD. Clinical and diagnostic measures were cross-sectionally obtained from 17 sCJD patients (15 definite, two probable), 13 non-prion rapidly progressive dementia patients (npRPD), and 18 unimpaired controls. In a subset of patients (nine sCJD and nine npRPD) diffusion tensor imaging (DTI) measures [fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD)] were also obtained for the caudate, corpus callosum, posterior limb of the internal capsule, pulvinar, precuneus, and frontal lobe. Differences among groups were assessed by an analysis of variance. Compared to npRPD individuals, sCJD patients had cerebellar dysfunction, significantly higher CSF tau, "positive" CSF 14-3-3, and hyperintensities on diffusion-weighted imaging (DWI) that met previously established imaging criteria for sCJD. EEG changes were similar for the two groups. In addition, sCJD patients had significant decreases in DTI measures (MD, AD, RD but not FA) within the caudate and pulvinar compared to either npRPD patients or unimpaired controls. Our results confirm that CSF abnormalities and MRI (especially DWI) can assist in distinguishing sCJD patients from npRPD patients. Future longitudinal studies using multiple measures (including CSF and MRI) are needed for evaluating pathological changes seen in sCJD patients.
散发性克雅氏病（sCJD）是一种快速进展性痴呆（RPD），生前很难识别，明确诊断需要组织确认。我们描述了一组 30 名接受 RPD 评估的患者的临床、磁共振成像（MRI）、脑脊液（CSF）和脑电图（EEG）测量值。临床和诊断措施从 17 名 sCJD 患者（15 名确诊，2 名可能）、13 名非朊病毒快速进展性痴呆患者（npRPD）和 18 名未受损对照中获得。在一组患者（9 名 sCJD 和 9 名 npRPD）中，还对尾状核、胼胝体、内囊后肢、丘脑、楔前叶和额叶进行了扩散张量成像（DTI）测量（各向异性分数（FA）、平均弥散度（MD）、轴向弥散度（AD）和径向弥散度（RD））。采用方差分析评估组间差异。与 npRPD 个体相比，sCJD 患者存在小脑功能障碍，CSF 中 tau 明显升高，CSF 中“阳性”14-3-3，以及扩散加权成像（DWI）上的高信号符合先前建立的 sCJD 影像学标准。两组的脑电图变化相似。此外，与 npRPD 患者或未受损对照组相比，sCJD 患者的尾状核和丘脑内 DTI 测量值（MD、AD、RD，但不是 FA）显著降低。我们的研究结果证实，CSF 异常和 MRI（特别是 DWI）有助于将 sCJD 患者与 npRPD 患者区分开来。未来需要使用多种测量方法（包括 CSF 和 MRI）进行纵向研究，以评估 sCJD 患者中观察到的病理变化。
