ArticleActa neuropathologica2021
Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.
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Article in Acta neuropathologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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34citing papers in PubMed, 3 pooled it
3.4field-weighted citation impact, top 6% of its field
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review.Journal of neurology · 2026Pooled it
- Genetic Creutzfeldt-Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Systematic Review of Clinical and Pathophysiological Features of Genetic Creutzfeldt-Jakob Disease Caused by a Val-to-Ile Mutation at Codon 180 in the Prion Protein Gene.International journal of molecular sciences · 2022Pooled it
- α-Synuclein strain homogeneity in multiple system atrophy subtypes.Brain pathology (Zurich, Switzerland) · 2026Article
- E200K genetic Creutzfeldt-Jakob disease with codon 129 MV heterozygosity presenting with a V2-like phenotype: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- The Phenotypic Spectrum of Sporadic Creutzfeldt-Jakob Disease Cortical Subtype.Annals of neurology · 2026Article
- Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.Acta neuropathologica · 2026Article
- Characterization of prion strains and peripheral prion infectivity patterns in E200K genetic CJD patients.Acta neuropathologica · 2025Article
- The comparative analysis between sporadic and genetic Creutzfeldt-Jakob disease in China.Acta neurologica Belgica · 2025Article
- Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.Annals of clinical and translational neurology · 2025Article
- Advancing Prion Diagnostics: RT-QuIC Applications in Peripheral Tissues.Sub-cellular biochemistry · 2025Review
- Biological Fluid Biomarkers in Human Prion Diseases with a Note on Biosafety.Sub-cellular biochemistry · 2025Review
- Prion Disease Diagnostic Biomarker Utility in Pre-symptomatic Disease.Sub-cellular biochemistry · 2025Review
- New Therapeutic Modalities in Prion Diseases.Sub-cellular biochemistry · 2025Review
- Unsuccessful transmissions of atypical genetic Creutzfeldt-Jakob disease (PRNP p.T183A-129M) in transgenic mice.Acta neuropathologica · 2024Article
- A Systematic Review of Sporadic Creutzfeldt-Jakob Disease: Pathogenesis, Diagnosis, and Therapeutic Attempts.Neurology international · 2024Review
- Convergent generation of atypical prions in knockin mouse models of genetic prion disease.The Journal of clinical investigation · 2024Article
- Transmission experiments verify sporadic V2 prion in a patient with E200K mutation.Acta neuropathologica · 2024Article
- Sensory disturbances in Creutzfeldt-Jakob disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Diagnostic and prognostic value of cerebrospinal fluid SNAP-25 and neurogranin in Creutzfeldt-Jakob disease in a clinical setting cohort of rapidly progressive dementias.Alzheimer's research & therapy · 2023Article
Corrections and comments
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Authors and funding
19 authors at 8 institutions in 6 countries.
Simone BaiardiIRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Via Altura 1/8, 40139, Bologna, Italy.
Marcello RossiIRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Via Altura 1/8, 40139, Bologna, Italy.
Angela MammanaIRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Via Altura 1/8, 40139, Bologna, Italy.
Brian S ApplebyDepartment of Pathology, School of Medicine, Case Western Reserve University, Cleveland, OH, USA.
Marcelo A BarriaNational CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, Western General Hospital, University of Edinburgh, Edinburgh, UK.
Ignazio CalìDepartment of Pathology, School of Medicine, Case Western Reserve University, Cleveland, OH, USA.
Pierluigi GambettiDepartment of Pathology, School of Medicine, Case Western Reserve University, Cleveland, OH, USA.
Ellen GelpiDivision of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria.
Armin GieseCenter for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, Munich, Germany.
Bernardino GhettiDepartment of Pathology and Laboratory Medicine, School of Medicine, Indiana University, Indianapolis, IN, USA.
Jochen HermsCenter for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, Munich, Germany.
Anna LadoganaDepartment of Neuroscience, Istituto Superiore di Sanità, Rome, Italy.
Jacqueline MikolService d'Etude des Prions et des Infections Atypiques, Université Paris-Saclay, CEA, Fontenay-aux-Roses, France.
Suvankar PalNational CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, Western General Hospital, University of Edinburgh, Edinburgh, UK.
Diane L RitchieNational CJD Research & Surveillance Unit, Centre for Clinical Brain Sciences, Western General Hospital, University of Edinburgh, Edinburgh, UK.
Viktoria RufCenter for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, Munich, Germany.
Otto WindlCenter for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, Munich, Germany.
Sabina CapellariIRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Via Altura 1/8, 40139, Bologna, Italy. sabina.capellari@unibo.it.
Piero ParchiIRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Via Altura 1/8, 40139, Bologna, Italy. piero.parchi@unibo.it.ORCID 0000-0002-9444-9524
Istituto delle Scienze Neurologiche di Bologna · ITLudwig-Maximilians-Universität München · DECase Western Reserve University · USWestern General Hospital · GBCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRIndiana University Indianapolis · USIstituto Superiore di Sanità · ITMedical University of Vienna · AT
Funding
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
$242kNIA NIH HHS K99 AG068359NIH HHS K99AG068359NIH HHS P01P01AI07774
Abstract
The current classification of sporadic Creutzfeldt-Jakob disease (sCJD) includes six major clinicopathological subtypes defined by the physicochemical properties of the protease-resistant core of the pathologic prion protein (PrP
Indexed as
AdultAgedCodonCohort StudiesCreutzfeldt-Jakob SyndromeFemaleGenotypeHumansInsomnia, Fatal FamilialMaleMiddle AgedMutationPhenotypePrion ProteinsPrPSc ProteinsCodonPrion ProteinsPRNP protein, humanPrPSc ProteinsCJD subtypesFatal familial insomniaFFIPrion diseasePrion proteinPrion strainsPRNP
Identifiers
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