The Clinical Stages of Sporadic Creutzfeldt-Jakob Disease with Met/Met Genotype in Korean Patients

Abstract

Background: Clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is currently based on changes occurring in the late disease stages, which limits early-stage detection. Therefore, we investigated the disease course from the vague symptomatic to the terminal phase. Methods: We retrospectively reviewed 36 sCJD patient records, classifying the disease progression into 4 stages based on clinical manifestations: vague symptomatic, possible CJD, probable CJD and chronic vegetative state. We analyzed findings from diffusion-weighted imaging (DWI), electroencephalography (EEG) and cerebrospinal fluid (CSF) 14-3-3 protein testing performed at each stage. Results: In stage 1, the most distinctive feature was DWI hyperintensities in the neocortex, even with negative CSF 14-3-3 protein and EEG results. In stage 2, DWI hyperintensities in the limbic cortex were more remarkable. CSF 14-3-3 protein testing yielded positive results in >80% of patients; EEG showed sensitivity in <30% of patients. With progression toward stage 3, DWI hyperintensities in the subcortical nucleus increased, with a sustained higher rate of hyperintensities in the limbic and neocortical regions. With gradual progression to stage 4, the sensitivity of CSF 14-3-3 protein testing and EEG decreased and increased, respectively within limited data. Conclusions: Understanding disease stage-dependent differences in clinical symptoms and laboratory test results will facilitate early and accurate diagnosis.

Epidemiological and Clinical Characteristics of Sporadic Creutzfeldt–Jakob Disease: A Retrospective Study in Eastern China

“…The mean age of disease onset in this study (64.42 years old) was comparable with the findings from Korea (65.5 years) (18), Japan (65.5 years) (19), the United States (66.15 years), (20) and Europe (66 years) ( 21), but higher than that of a few Chinese patient groups [58 years ( 14) 60.3 years ( 9)]. Another two surveys in China have produced results essentially in agreement with ours at the median onset age, which was 64 years in our study (8,11).…”

Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease

“…The future possibilities of brain MRI include its application as a prognostic marker 88 and as a potential marker in trial monitoring. 89,90 Interestingly, restricted diffusion can occur in very early disease stages. Although prospective data is not available, it was illustrated that it can be observed in pre-symptomatic patients with familial CJD (E200K mutation) and sCJD.…”

Prion propagation estimated from brain diffusion MRI is subtype dependent in sporadic Creutzfeldt–Jakob disease

“…Three longitudinal studies have previously addressed the evolution of DWI abnormalities in CJD [7,17,23]. All of them suffer from two key limitations: (i) they rely on predefined a priori stages for assessing lesion propagation, leading to a decrease in the resolution; and (ii) they involve substantially smaller datasets, which preclude the analyses of the individual sCJD subtypes.…”