ArticlePrion2016
Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease.
Article in Prion, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Review
- Prion protein E219K polymorphism: from the discovery of the KANNO blood group to interventions for human prion disease.Frontiers in neurology · 2024Review
- Creutzfeldt-Jakob disease presenting as Korsakoff syndrome caused by E196A mutation inWorld journal of clinical cases · 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
- 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
- Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.Prion · 2020Review
- Structural insight into conformational change in prion protein by breakage of electrostatic network around H187 due to its protonation.Scientific reports · 2019Article
- Profiles of 14-3-3 and Total Tau in CSF Samples of Chinese Patients of Different Genetic Prion Diseases.Frontiers in neuroscience · 2019Article
- Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.Clinical interventions in aging · 2019Article
- Article
- Characterization of mutations inNeuropsychiatric disease and treatment · 2018Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited prion diseases are characterized by mutations in the PRNP gene, which account for 5-15% of human prion diseases. Here we reported 3 Chinese genetic Creutzfeldt-Jacob disease cases (gCJD) with a rare mutation in PRNP leading to an exchange of amino acid from glutamic acid (E) to alanine (A) at codon 196 (E196A). All three patients were Han Chinese without any sibship among them. They showed various unspecific symptoms at onset and displayed typical clinical manifestations of sporadic CJD with progress of disease. The same time, 2 cases showed psychotic symptoms during the clinical courses. 14-3-3 proteins were positive in cerebrospinal fluid (CSF) and special abnormality were detected in MRI of all the cases. The polymorphism of codon 129 was methionin homozygote and that of codon 219 was glutamate homozygote in all 3 patients. The disease durations of the 3 cases varied from 10 to 22 months and no disease associated family history was figured out in all the cases.
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