Abstract
AbstractBackgroundAlthough definite diagnosis for Creutzfeldt‐Jakob disease(CJD) requires tissue confirmation, diffusion‐weighted imaging (DWI) of the brain has an important role in the diagnosis of CJD. Also elevated CSF total tau (t‐tau) is considered as an useful CJD biomarker revealing neuro‐axonal damage although it is not specific for CJD. In this study, we attempted to find out the association between DWI abnormality and CSF t‐tau in CJD patients.MethodWe retrospectively analyzed the medical records reported as human prion disease.The patients who had been diagnosed and reported as human prion disease to Korea Disease Control and Prevention Agency (KDCA) by medical institutions in South Korea during the period of January 1, 2019 to December 31, 2019 were included in this study. The clinical information of the reported patients had been reviewed by a clinical review committee of KDCA for CJD and the patients who had fulfilled the criteria for probable CJD were evaluated for clinical, radiological, and laboratory findings.ResultA total of 186 patients had been reported as suspected human prion disease during the one‐year period and 53 patients who satisfied the criteria for human prion disease were included in the analysis. The most common clinical presentation was cognitive change, followed by cerebellar dysfunction and extrapyramidal symptoms. Hyperintense lesions on DWI were observed in 52 patients (98%). The involvement of neocortex was observed in almost all patients (98%) and asymmetrical and bilateral hyperintensities on DWI were common. Among neocortex, the most commonly involved region was parietal lobe, followed by frontal lobe, temporal lobe, and occipital lobe. DWI abnormality in striatum and/or thalamus was observed in 65.3% of patients. CSF t‐tau was elevated in sporadic CJD patients (8998.3±11903.7 pg/ml) There was no significant association between the extent of the lesions on DWI and CSF t‐tau.ConclusionIn this study,most of the patients with probable CJD showed DWI abnormality mainly on neocortex (parietal > frontal > temporal > occipital) but the association between the pattern of DWI abnormality and the level of CSF t‐tau was not observed.
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