ArticlePloS one2015
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
- Review
- Different reactive profiles of calmodulin in the CSF samples of Chinese patients of four types of genetic prion diseases.Frontiers in molecular neuroscience · 2024Article
- Geographic Diversity in the Incidence of Human Prion Diseases - China, 2006-2019.China CDC weekly · 2023Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- Article
- Review
- Characteristics of Different Types of Prion Diseases - China's Surveillance.China CDC weekly · 2022Review
- Validation and Application of Skin RT-QuIC to Patients in China with Probable CJD.Pathogens (Basel, Switzerland) · 2021Article
- Article
- Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation inBMJ open · 2021Article
- Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.Neuroscience bulletin · 2021Article
- The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.Nature reviews. Neurology · 2021Review
- Myoclonus-Ataxia Syndromes: A Diagnostic Approach.Movement disorders clinical practice · 2021Review
- Clinicopathological findings of a long-term survivor of V180I genetic Creutzfeldt-Jakob disease.Prion · 2020Article
- Article
- Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.Neurogenetics · 2020Article
- Clinical and Laboratory Features of Three Rare Chinese V210I gCJD Patients.Pathogens (Basel, Switzerland) · 2020Article
- Clinical Reasoning: A 45-year-old man with progressive insomnia and psychiatric and motor symptoms.Neurology · 2020Article
- T188K-Familial Creutzfeldt-Jacob Disease, Predominant Among Chinese, has a Reactive Pattern in CSF RT-QuIC Different from D178N-Fatal Familial Insomnia and E200K-Familial CJD.Neuroscience bulletin · 2019Article
- Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease.Journal of clinical neurology (Seoul, Korea) · 2019Article
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify the features of Chinese genetic prion diseases.
methodsSuspected Creutzfeldt-Jakob disease (CJD) cases that were reported under CJD surveillance were diagnosed and subtyped using the diagnostic criteria issued by the WHO. The general information concerning the patient, their clinical, MRI and EEG data, and the results of CSF 14-3-3 and PRNP sequencing were carefully collected from the database of the national CJD surveillance program and analyzed using the SPSS 11.5 statistical software program.
resultsSince 2006, 69 patients were diagnosed with genetic prion diseases and as having 15 different mutations. The median age of the 69 patients at disease onset was 53.5 years, varying from 19 to 80 years. The majority of patients displaying clinical symptoms were in the 50-59 years of age. FFI, T188K gCJD and E200K were the three most common subtypes. The disease appeared in the family histories of 43.48% of the patients. The clinical manifestations varied considerably among the various diseases. Patients who carried mutations in the N-terminus displayed a younger age of onset, were CSF 14-3-3 negative, had a family history of the condition, and experienced a longer duration of the condition. The clinical courses of T188K were significantly shorter than those of FFI and E200K gCJD, while the symptoms in the FFI group appeared at a younger age and for a longer duration. Moreover, the time intervals between the initial neurologist visit to the final diagnosis were similar among patients with FFI, T188K gCJD, E200K gCJD and other diseases.
conclusionThe features of Chinese genetic prion diseases are different from those seen in Europe and other Asian countries.
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