ArticleActa neuropathologica communications2013
Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases.
Article in Acta neuropathologica communications, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Understanding Creutzfeldt-Jakob disease in Iran: a systematic review of case reports.The Journal of international medical research · 2024Pooled it
- Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.Acta neuropathologica · 2026Article
- Anti-prion drugs do not improve survival in novel knock-in models of inherited prion disease.PLoS pathogens · 2024Article
- Review
- Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.Annals of neurosciences · 2022Review
- Article
- Two distinct conformers of PrPActa neuropathologica communications · 2021Article
- Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.Acta neuropathologica · 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
- Recent advances in the histo-molecular pathology of human prion disease.Brain pathology (Zurich, Switzerland) · 2019Review
- Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.Acta neuropathologica communications · 2019Article
- Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.Clinical interventions in aging · 2019Article
- Genetic PrP Prion Diseases.Cold Spring Harbor perspectives in biology · 2018Review
- Prion disease.Handbook of clinical neurology · 2018Review
- Characterization of mutations inNeuropsychiatric disease and treatment · 2018Review
- Hereditary Human Prion Diseases: an Update.Molecular neurobiology · 2017Review
- Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Review
- A Comparison of Classical and H-Type Bovine Spongiform Encephalopathy Associated with E211K Prion Protein Polymorphism in Wild-Type and EK211 Cattle Following Intracranial Inoculation.Frontiers in veterinary science · 2016Article
- Prion Diseases.Continuum (Minneapolis, Minn.) · 2015Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200, E200G with codon 129 MV polymorphism (cis valine) and type 2 PrPSc was identified in a patient with a prolonged disease course leading to pathology-proven Jakob-Creutzfeldt disease. Despite the same codon as the most common genetic form of human PRNP mutation, E200K, this novel mutation (E200G) presented with a different clinical and pathological phenotype, including prolonged duration, large vacuoles, no vacuolation in the hippocampus, severe neuronal loss in the thalamus, mild cerebellar involvement, and abundant punctate linear and curvilinear deposition of PrPSc in synaptic boutons and axonal terminals along the dendrites.
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