1.Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Qi SHI ; Cao CHEN ; Kang XIAO ; Wei ZHOU ; Li-Ping GAO ; Dong-Dong CHEN ; Yue-Zhang WU ; Yuan WANG ; Chao HU ; Chen GAO ; Xiao-Ping DONG
Neuroscience Bulletin 2021;37(11):1570-1582
Human genetic prion diseases (gPrDs) are directly associated with mutations and insertions in the PRNP (Prion Protein) gene. We collected and analyzed the data of 218 Chinese gPrD patients identified between Jan 2006 and June 2020. Nineteen different subtypes were identified and gPrDs accounted for 10.9% of all diagnosed PrDs within the same period. Some subtypes of gPrDs showed a degree of geographic association. The age at onset of Chinese gPrDs peaked in the 50-59 year group. Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI) cases usually displayed clinical symptoms earlier than genetic Creutzfeldt-Jakob disease (gCJD) patients with point mutations. A family history was more frequently recalled in P105L GSS and D178N FFI patients than T188K and E200K patients. None of the E196A gCJD patients reported a family history. The gCJD cases with point mutations always developed clinical manifestations typical of sporadic CJD (sCJD). EEG examination was not sensitive for gPrDs. sCJD-associated abnormalities on MRI were found in high proportions of GSS and gCJD patients. CSF 14-3-3 positivity was frequently detected in gCJD patients. Increased CSF tau was found in more than half of FFI and T188K gCJD cases, and an even higher proportion of E196A and E200K gCJD patients. 63.6% of P105L GSS cases showed a positive reaction in cerebrospinal fluid RT-QuIC. GSS and FFI cases had longer durations than most subtypes of gCJD. This is one of the largest studies of gPrDs in East Asians, and the illness profile of Chinese gPrDs is clearly distinct. Extremely high proportions of T188K and E196A occur among Chinese gPrDs; these mutations are rarely reported in Caucasians and Japanese.
14-3-3 Proteins/cerebrospinal fluid*
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China
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Creutzfeldt-Jakob Syndrome/genetics*
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Humans
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Mutation/genetics*
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Prion Diseases/genetics*
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Prion Proteins/genetics*
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Prions/genetics*
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tau Proteins/cerebrospinal fluid*
2.Cerebrospinal Fluids from Patients with Five Common Genetic Prion Diseases in China Display Distinct Reactivities in the RT-QuIC Assays.
Chao HU ; Cao CHEN ; Jia CHEN ; Kang XIAO ; Wei ZHOU ; Ying XIA ; Wei YANG ; Lin WANG ; Qi SHI ; Xiao Ping DONG
Biomedical and Environmental Sciences 2021;34(10):830-833
3.Real-Time Quaking-Induced Conversion Analysis for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in Korea.
Jeong Ho PARK ; Yeong Gon CHOI ; Yun Jung LEE ; Seok Joo PARK ; Hong Seok CHOI ; Kyung Chan CHOI ; Eun Kyoung CHOI ; Yong Sun KIM
Journal of Clinical Neurology 2016;12(1):101-106
BACKGROUND AND PURPOSE: The level of 14-3-3 protein in the cerebrospinal fluid (CSF) is increased in Creutzfeldt-Jakob disease (CJD) patients, which has led to it being used as a clinical biomarker for the ante-mortem diagnosis of human prion diseases. However, the specificity of the 14-3-3 protein is less reliable for CJD diagnosis. Newly developed assays including real-time quaking-induced conversion (RT-QuIC) have made it possible to detect the PrPSc-like abnormal prion isoform with a high sensitivity in animal and human specimens that might contain a minute amount of PrP(Sc) due to in vitro prion replication. METHODS: This study applied a highly sensitive RT-QuIC assay using recombinant human PrP to detect PrP(Sc) in the CSF of 81 patients with sporadic CJD (sCJD) in Korea. RESULTS: RT-QuIC analysis of the CSF samples based on the expression levels of 14-3-3 and total tau proteins revealed positivity in 62 of 81 sCJD patients (sensitivity of 76.5%) but no positive results in the 100 non-CJD patients. CONCLUSIONS: The sensitivity of the RT-QuIC in this study was similar to that in some previous reports, and the specificity of RT-QuIC was higher than that of 14-3-3 in CSF, suggesting that RT-QuIC analysis can complement the weakness of the specificity of 14-3-3 for the diagnosis of sCJD. These results indicate that RT-QuIC might be very useful for the rapid and specific diagnosis of sCJD and provide a practical novel method for the ante-mortem diagnosis of human prion diseases.
14-3-3 Proteins
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Animals
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Cerebrospinal Fluid
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Complement System Proteins
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Creutzfeldt-Jakob Syndrome*
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Diagnosis*
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Humans
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Korea*
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Prion Diseases
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Sensitivity and Specificity
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tau Proteins
4.Clinics in diagnostic imaging (193). Sporadic Creutzfeldt-Jakob disease (sCJD).
Jun Si Yuan LI ; Kheng Choon LIM ; Winston Eng Hoe LIM ; Robert Chun CHEN
Singapore medical journal 2018;59(12):634-641
A 68-year-old man presented with a three-week history of rapidly progressive dementia, gait ataxia and myoclonus. Subsequent electroencephalography showed periodic sharp wave complexes, and cerebrospinal fluid assay revealed the presence of a 14-3-3 protein. A probable diagnosis of sporadic Creutzfeldt-Jakob disease was made, which was further supported by magnetic resonance (MR) imaging of the brain showing asymmetric signal abnormality in the cerebral cortices and basal ganglia. The aetiology, clinical features, diagnostic criteria, various MR imaging patterns and radiologic differential diagnosis of sporadic Creutzfeldt-Jakob disease are discussed in this article.
Aged
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Brain
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pathology
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Cerebral Cortex
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Cerebrospinal Fluid
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metabolism
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Creutzfeldt-Jakob Syndrome
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diagnostic imaging
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Dementia
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physiopathology
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Diagnosis, Differential
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Diffusion Magnetic Resonance Imaging
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Electroencephalography
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Humans
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Hypoxia-Ischemia, Brain
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diagnostic imaging
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Male
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Prion Diseases
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physiopathology