ArticleArchives of neurology2009
Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype.
Article in Archives of neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review.Journal of neurology · 2026Pooled it
- Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.Acta neuropathologica · 2026Article
- Review
- Cerebrospinal fluid p-tau181, 217, and 231 in definite Creutzfeldt-Jakob disease with and without concomitant pathologies.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins.Acta neuropathologica communications · 2019Article
- Validation of the Erlangen Score Algorithm for Differential Dementia Diagnosis in Autopsy-Confirmed Subjects.Journal of Alzheimer's disease : JAD · 2019Article
- Co-occurrence of chronic traumatic encephalopathy and prion disease.Acta neuropathologica communications · 2018Article
- Protein Co-Aggregation Related to Amyloids: Methods of Investigation, Diversity, and Classification.International journal of molecular sciences · 2018Review
- Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology: an international study.Acta neuropathologica communications · 2018Article
- Article
- Preclinical amyloid pathology biomarker positivity: effects on tau pathology and neurodegeneration.Translational psychiatry · 2017Article
- Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and Aβ42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer's Disease with Emphasis on Atypical Disease Variants.Journal of Alzheimer's disease : JAD · 2017Article
- Review
- Dura mater is a potential source of Aβ seeds.Acta neuropathologica · 2016Article
- Drivers: A Biologically Contextualized, Cross-Inferential View of the Epidemiology of Neurodegenerative Disorders.Journal of Alzheimer's disease : JAD · 2016Article
- Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases.Acta neuropathologica communications · 2013Article
- Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.Journal of neurology · 2013Article
- Signal transduction in neurons: effects of cellular prion protein on fyn kinase and ERK1/2 kinase.Immunity & ageing : I & A · 2010Article
- Towards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examples.Archives of toxicology · 2010Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundDominantly inherited Creutzfeldt-Jakob disease (CJD) represents 5% to 15% of all CJD cases. The E200K mutation in the prion protein (PrP) gene (PRNP) is the most frequent cause of familial CJD. Coexistent amyloid beta (Abeta) plaques have been reported in some transmissible spongiform encephalopathies but to date have not been reported in familial CJD with the E200K mutation.
objectiveTo characterize a family with CJD in which Abeta plaques codistribute with spongiform degeneration.
designClinicopathologic and molecular study of a family with CJD with the E200K-129M haplotype.
settingAlzheimer disease research center.
participantsTwo generations of a family.
main outcome measuresClinical, biochemical, and neuropathologic observations in 2 generations of a family.
resultsIn this kindred, 3 autopsied cases showed pathologic changes typical for the E200K-129M haplotype, including spongiform degeneration, gliosis, neuronal loss, and PrP deposition. Moreover, 2 of these cases (ages 57 and 63 years) showed numerous Abeta plaques codistributed with spongiform degeneration. APOE genotyping in 2 cases revealed that Abeta plaques were present in the APOE epsilon4 carrier but not in the APOE epsilon4 noncarrier. Two additional cases exhibited incomplete penetrance, as they had no clinical evidence of CJD at death after age 80 years but had affected siblings and children.
conclusionsTo our knowledge, this is the first description of Abeta plaques in familial CJD with the E200K mutation. The codistribution of plaques and CJD-associated changes suggests that PrP plays a central role in Abeta formation and that Abeta pathology and prion disease likely in fluence each other. The kindred described herein provides support that PrP(E200K) may result in increased Abeta deposition.
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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.