Role of magnetic resonance imaging, cerebrospinal fluid, and electroencephalogram in diagnosis of sporadic Creutzfeldt-Jakob disease

Abstract

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive dementia (RPD) that can be difficult to identify ante-mortem, 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, 2 probable), 13 non-prion rapidly progressive dementia patients (npRPD), and 18 unimpaired controls. In a subset of patients (9 sCJD and 9 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.

EEG in adults in the laboratory or at the patient's bedside

“…These elements could explain the low sensitivity reported in some studies: 44% [171]; 50% [97], 58.4% [37]; 64% [149]; 65% [125]; 66% [172]. One study even concluded as to the lack of usefulness of EEG in discriminating sporadic CJD from other non-prion rapidly progressive dementia (sensitivity 41%; specificity 54%), but the results of this study is limited by the low number of patients included (n = 30) [167].…”

Insights from Therapeutic Studies for PrP Prion Disease

“…Current diagnosis of CJD relies on a combination of results from magnetic resonance imaging, cerebrospinal fluid analysis, and electroencephalography (Zerr 2009;Wang et al 2013). In addition, new technologies, such as quakinginduced conversion analysis for detecting an ultra-trace amount of PrP Sc in the cerebrospinal fluid (Atarashi et al 2011;McGuire et al 2012;Sano et al 2013;Cramm et al 2015;Orrú et al 2015), nasal brushings (Orrú et al 2014), urine (Moda et al 2014), or blood (Orrú and Caughey 2011;Orrú et al 2012), have presented new opportunities for early diagnosis.…”

Developments in auxiliary examination of Creutzfeldt-Jakob disease

“…Some studies hypothesized that the spongiform changes in CJD could restrict water molecule diffusion and lead to decreased MD and a relative preservation of FA. [50,51] Along with the changing of DWI hyperintensity in the disease course of CJD, MD decreases in the early stage of disease and tends to be normal or increase in the terminal stage. The increasing MD is associated with more significant loss of function.…”