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



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.



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.



Understanding disease stage-dependent differences in clinical symptoms and laboratory test results will facilitate early and accurate diagnosis.
Clinical Neuroscience Center, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
So Young
SY
Park
Min Jeong
MJ
Wang
Jae-Won
JW
Jang
Young Ho
YH
Park
Jae-Sung
JS
Lim
Young Chul
YC
Youn
Jungeun
J
Kim
SangYun
S
Kim
D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid; D000368:Aged; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods; D018450:Disease Progression; D004569:Electroencephalography; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies
D048948:14-3-3 Proteins