ArticleMolecular medicine (Cambridge, Mass.)1995
Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene.
Article in Molecular medicine (Cambridge, Mass.), 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
What it found
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Who cites it
39 citing papers in PubMed, 92 citations in OpenAlex.
- Mortality of Individuals WithNeurology. Genetics · 2026Article
- A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel.European journal of neurology · 2026Article
- Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt-Jakob Disease With T188K Mutation.Annals of clinical and translational neurology · 2026Article
- Mortality of individuals with antemortem genetic testing formedRxiv : the preprint server for health sciences · 2025Article
- Characterization of prion strains and peripheral prion infectivity patterns in E200K genetic CJD patients.Acta neuropathologica · 2025Article
- Diagnosis of Prion Diseases.Sub-cellular biochemistry · 2025Review
- Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation inBMJ open · 2021Article
- Familial Creutzfeldt-Jakob disease homozygous to the E200K mutation: clinical characteristics and disease course.Journal of neurology · 2020Article
- Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.Acta neuropathologica · 2020Article
- Quantifying the Role of Lysine in Prion Replication by Nano-LC Mass Spectrometry and Bioassay.Frontiers in bioengineering and biotechnology · 2020Article
- Clinical Laboratory Tests Used To Aid in Diagnosis of Human Prion Disease.Journal of clinical microbiology · 2019Review
- Genetic PrP Prion Diseases.Cold Spring Harbor perspectives in biology · 2018Review
- Prion disease.Handbook of clinical neurology · 2018Review
- Effects of a naturally occurring amino acid substitution in bovine PrP: a model for inherited prion disease in a natural host species.BMC research notes · 2017Article
- Hereditary Human Prion Diseases: an Update.Molecular neurobiology · 2017Review
- Viral Infections and Obesity.Current obesity reports · 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
- Quantifying prion disease penetrance using large population control cohorts.Science translational medicine · 2016Article
- Modulation of Creutzfeldt-Jakob disease prion propagation by the A224V mutation.Annals of neurology · 2015Article
- Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundCreutzfeldt-Jakob disease (CJD) is a prion disease which is manifest as a sporadic, inherited, and transmissible neurodegenerative disorder. The mean age at onset of CJD is approximately 60 years, and as such, many people destined to succumb undoubtedly die of other illnesses first. The delayed onset of CJD has complicated the analysis of inherited forms of the illness and led to the suggestion that mutations in the prion protein (PrP) gene are necessary but not sufficient for prion disease despite genetic linkage; indeed, an environmental factor such as a ubiquitous virus has been proposed as a second necessary factor. MATERIALS AND
methodsTo examine what appeared to be incomplete penetrance, we applied a life-table analysis to clinical and pedigree data from a cluster population of Libyan Jews in which the E200K mutation is prevalent. The study population included 42 affected and 44 unaffected members of 13 Libyan Jewish families, all of whom possessed the E200K mutation.
resultsThe calculated value using life table analysis is 0.77 at age 70 which increases to 0.89 if a mutation carrier survives to age 80 and 0.96 if age 80 is surpassed.
conclusionsThese data argue that the E200K mutation alone is sufficient to cause prion disease and does so in an age-dependent manner.
Indexed as
Identifiers
8529127PMC2229975W116454012What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.