A Case of a Patient Who Presented with Rapidly Progressive Dementia and Capricious RT-QuIC Results.

Dementia and neurocognitive disorders Pub Date : 2020-03-01 Epub Date: 2020-03-16 DOI:10.12779/dnd.2020.19.1.36

Eunjoo Rhee, Sung Eun Chung, Hyung Ji Kim, Jae Hong Lee

{"title":"A Case of a Patient Who Presented with Rapidly Progressive Dementia and Capricious RT-QuIC Results.","authors":"Eunjoo Rhee, Sung Eun Chung, Hyung Ji Kim, Jae Hong Lee","doi":"10.12779/dnd.2020.19.1.36","DOIUrl":null,"url":null,"abstract":"Creutzfeldt-Jakob disease (CJD) is the most common prion disease in humans. Once formed by unknown cause, PrPsc can make the normal cellular PrP (PrPc) transform into the pathogenic PrPsc in a cascade. Consequent extensive neuronal loss causes dementia, involuntary movement, psychosis, and incoordination. The criteria for clinical diagnosis include cerebrospinal fluid (CSF) biomarkers (e.g., 14-3-3 protein and t-tau), specific magnetic resonance image (MRI) finding, electroencephalography (EEG), and clinical symptoms.1 Recently, in vitro protein misfolding amplification system, the real-time quakinginduced conversion assay (RT-QuIC), for the detection of PrPsc in CSF was developed and showed ultra-high sensitivity and specificity, amending the diagnostic criteria.2 Here, we report the case of a patient without obvious clinical symptoms of sporadic Creutzfeldt-Jakob disease (sCJD) except rapidly progressive cognitive decline and a positive RT-QuIC assay who was not CJD.","PeriodicalId":72779,"journal":{"name":"Dementia and neurocognitive disorders","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f1/77/dnd-19-36.PMC7105714.pdf","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Dementia and neurocognitive disorders","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12779/dnd.2020.19.1.36","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/3/16 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 1

Abstract

Creutzfeldt-Jakob disease (CJD) is the most common prion disease in humans. Once formed by unknown cause, PrPsc can make the normal cellular PrP (PrPc) transform into the pathogenic PrPsc in a cascade. Consequent extensive neuronal loss causes dementia, involuntary movement, psychosis, and incoordination. The criteria for clinical diagnosis include cerebrospinal fluid (CSF) biomarkers (e.g., 14-3-3 protein and t-tau), specific magnetic resonance image (MRI) finding, electroencephalography (EEG), and clinical symptoms.1 Recently, in vitro protein misfolding amplification system, the real-time quakinginduced conversion assay (RT-QuIC), for the detection of PrPsc in CSF was developed and showed ultra-high sensitivity and specificity, amending the diagnostic criteria.2 Here, we report the case of a patient without obvious clinical symptoms of sporadic Creutzfeldt-Jakob disease (sCJD) except rapidly progressive cognitive decline and a positive RT-QuIC assay who was not CJD.

Abstract Image