Evidence map›Paper›PMID 41528501›Full record

ArticleActa neuropathologica2026

Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.

Brian S Appleby, Matteo Manca, Megan S Piazza, Travis D Kerr, Antonio Cornacchia, Alberto Bizzi, Allison Kraus, Mark L Cohen, Ignazio Cali

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Acta neuropathologica, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Brian S ApplebyDepartment of Pathology, School of Medicine, Case Western Reserve University, Cleveland, USA. bsa35@case.edu.
Matteo MancaDepartment of Pathology, School of Medicine, Case Western Reserve University, Cleveland, USA.
Megan S PiazzaCenter for Human Genetics Laboratory, School of Medicine, Case Western Reserve University, Cleveland, USA.
Travis D KerrCenter for Immunotherapy and Precision Immuno-Oncology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
Antonio CornacchiaDepartment of Pathology, School of Medicine, Case Western Reserve University, Cleveland, USA.
Alberto BizziUOC Neuroradiologia, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.
Allison KrausDepartment of Pathology, School of Medicine, Case Western Reserve University, Cleveland, USA.
Mark L CohenDepartment of Pathology, School of Medicine, Case Western Reserve University, Cleveland, USA.
Ignazio CaliDepartment of Pathology, School of Medicine, Case Western Reserve University, Cleveland, USA. ixc20@case.edu.

Funding

Conformational properties of misfolded protein aggregates in cases involving the co-occurrence of prion disease and Alzehimer's disease or prion disease and CTER00AG068359 · NIA · CASE WESTERN RESERVE UNIVERSITY · PI CALI, IGNAZIO · 2022 to 2023
$498k
Conformational properties of misfolded protein aggregates in cases involving the co-occurrence of prion disease and Alzehimer's disease or prion disease and CTEK99AG068359 · NIA · CASE WESTERN RESERVE UNIVERSITY · PI CALI, IGNAZIO · 2020 to 2021
$242k
Centers for Disease Control and Prevention Foundation 1NU38CK000486European Union's Horizon 2020 No. 666992NIA NIH HHS K99 AG068359NIA NIH HHS R00 AG068359NIH K99/R00 AG068359
6 · The paper itself

Abstract

Creutzfeldt-Jakob disease (CJD), the most common human prion disease, is an invariably fatal neurodegenerative disorder affecting 1.5 cases per million individuals per year. About 10-15% of the human prion diseases are caused by a pathogenic variant in the prion protein (PrP) gene (PRNP), and the most common genetic human prion disease is CJD (gCJD) linked to a glutamic acid to lysine substitution at codon 200 (E200K) of PRNP. The polymorphic codon 129 methionine (M)/valine (V) genotype has a strong effect on disease phenotype. In the present study, we retrospectively evaluated many features of gCJD E200K cases with respect to the 129MV polymorphism, type of scrapie prion protein (PrP

Indexed as

Creutzfeldt-Jakob SyndromeMutationPrion ProteinsAgedAged, 80 and overBrainCodonCohort StudiesFemaleGenotypeHaplotypesHumansMaleMiddle AgedPolymorphism, GeneticPrionsCodonPrion ProteinsPrionsPRNP protein, humanCodon 129Creutzfeldt-Jakob diseaseE200KLesion profilePrion proteinRT-QuIC

Identifiers

PMID41528501
PMCPMC12799623

What OpenQuestion holds

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Registered trials

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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.