ArticleNeuroscience bulletin2021
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Article in Neuroscience bulletin, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 19 citations in OpenAlex.
- Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt-Jakob Disease With T188K Mutation.Annals of clinical and translational neurology · 2026Article
- High Proportions of GAP43 Positivity in the Cerebrospinal Fluids of Patients with Sporadic and Certain Types of Genetic Creutzfeldt-Jakob Diseases by Western Blot Analysis.International journal of molecular sciences · 2026Article
- Article
- The comparative analysis between sporadic and genetic Creutzfeldt-Jakob disease in China.Acta neurologica Belgica · 2025Article
- β-synuclein in cerebrospinal fluid as a potential biomarker for distinguishing human prion diseases from Alzheimer's and Parkinson's disease.Alzheimer's research & therapy · 2025Article
- Review
- Dopaminergic neurodegeneration in Gerstmann-Sträussler-Scheinker (P102L) disease: insights from imaging and pathological examination.Frontiers in neurology · 2024Article
- Different reactive profiles of calmodulin in the CSF samples of Chinese patients of four types of genetic prion diseases.Frontiers in molecular neuroscience · 2024Article
- Article
- Elevated E200K Somatic Mutation of the Prion Protein Gene (International journal of molecular sciences · 2023Article
- Creutzfeldt-Jakob disease presenting as Korsakoff syndrome caused by E196A mutation inWorld journal of clinical cases · 2023Article
- Genetic Movement Disorders Commonly Seen in Asians.Movement disorders clinical practice · 2023Review
- Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.Frontiers in neurology · 2023Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- Characteristics of Different Types of Prion Diseases - China's Surveillance.China CDC weekly · 2022Review
- Erythrocyte Indices in Creutzfeldt-Jakob Disease Predict Survival Time.Frontiers in neurology · 2022Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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