Clinical information including sex, age, disease severity, survival time and results of auxiliary examination (neuron-specific enolase [NSE] levels in plasma, 14–3-3 protein in CSF, electroencephalography [EEG] and MRI) were collected for all enrolled patients. The disease severity was quantified by Barth Index [21 (link), 22 (link)]. Survival time was defined as the time between the date of initial symptom onset to the date of death. MRI scans were conducted on a 3.0 Tesla MRI system (Siemens Magnetom Trio Tim MRI system, Germany) using standard coil. The high signal of DWI or FLAIR in caudate/putamen or at least two cortical regions (temporal, parietal or occipital) were indicative of CJD. Since previous studies have shown the presence of diffusion restriction in basal ganglia in the later stage of CJD and correlated it with faster disease progression [23 (link), 24 (link)], we also considered basal ganglia hyperintensity as a marker of more severe disease stage. EEG was performed using a 32-channel digital EEG system (DAVINCI-SAM, Micromed, Mogliano Veneto, Italy). Periodic sharp wave complexes (PSWCs) were described as the typical EEG pattern. CSF 14–3-3 protein was detected by western blotting as described previously [25 (link)]. PRNP gene and polymorphism of codon 129 were also tested [26 (link)].
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