Sporadic Creutzfeldt-Jakob disease VM1: phenotypic and molecular characterization of a novel subtype of human prion disease.


Journal

Acta neuropathologica communications
ISSN: 2051-5960
Titre abrégé: Acta Neuropathol Commun
Pays: England
ID NLM: 101610673

Informations de publication

Date de publication:
17 08 2022
Historique:
received: 08 06 2022
accepted: 24 07 2022
entrez: 17 8 2022
pubmed: 18 8 2022
medline: 20 8 2022
Statut: epublish

Résumé

The methionine (M)-valine (V) polymorphic codon 129 of the prion protein gene (PRNP) plays a central role in both susceptibility and phenotypic expression of sporadic Creutzfeldt-Jakob diseases (sCJD). Experimental transmissions of sCJD in humanized transgenic mice led to the isolation of five prion strains, named M1, M2C, M2T, V2, and V1, based on two major conformations of the pathological prion protein (PrP

Identifiants

pubmed: 35978418
doi: 10.1186/s40478-022-01415-7
pii: 10.1186/s40478-022-01415-7
pmc: PMC9387077
doi:

Substances chimiques

Codon 0
Prion Proteins 0
Prions 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

114

Informations de copyright

© 2022. The Author(s).

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Auteurs

Ellen Gelpi (E)

Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna and Austrian Reference Center for Human Prion Diseases (ÖRPE), AKH Leitstelle 4J, Waehringer Guertel 18-20, 1090, Vienna, Austria. ellen.gelpi@meduniwien.ac.at.
Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain. ellen.gelpi@meduniwien.ac.at.

Simone Baiardi (S)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 1/8, 40139, Bologna, Italy.
Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.

Carlos Nos (C)

General Subdirectorate of Surveillance and Response to Emergencies in Public Health, Department of Public Health in Catalonia, Barcelona, Spain.

Sofia Dellavalle (S)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 1/8, 40139, Bologna, Italy.

Iban Aldecoa (I)

Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain.
Department of Pathology, Center for Biomedical Diagnosis, Hospital Clinic de Barcelona, University of Barcelona, Barcelona, Spain.

Raquel Ruiz-Garcia (R)

Department of Immunology, Center for Biomedical Diagnosis, Hospital Clinic de Barcelona, Barcelona, Spain.

Lourdes Ispierto (L)

Cognitive and Movement Disorders Unit, Hospital Germans Trias I Pujol de Badalona, Barcelona, Spain.

Domingo Escudero (D)

Cognitive and Movement Disorders Unit, Hospital Germans Trias I Pujol de Badalona, Barcelona, Spain.
Neurology Department, Alzheimer Disease and Other Cognitive Disorders Unit, Hospital Clinic de Barcelona, Barcelona, Spain.

Virgina Casado (V)

Neurology Department, Hospital de Mataró, Barcelona, Spain.

Elena Barranco (E)

Department of Geriatrics, Hospital General de Granollers, Barcelona, Spain.

Anuncia Boltes (A)

Department of Neurology, Hospital General de Granollers, Barcelona, Spain.

Laura Molina-Porcel (L)

Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain.
Neurology Department, Alzheimer Disease and Other Cognitive Disorders Unit, Hospital Clinic de Barcelona, Barcelona, Spain.

Nuria Bargalló (N)

Radiology Department, Image Diagnosis Center, Hospital Clínic de Barcelona, Spain and Magnetic Resonance Image Core Facility of IDIBAPS, Barcelona, Spain.

Marcello Rossi (M)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 1/8, 40139, Bologna, Italy.

Angela Mammana (A)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 1/8, 40139, Bologna, Italy.

Dorina Tiple (D)

Department of Neuroscience, Istituto Superiore di Sanità, 00161, Rome, Italy.

Luana Vaianella (L)

Department of Neuroscience, Istituto Superiore di Sanità, 00161, Rome, Italy.

Elisabeth Stoegmann (E)

Department of Neurology, Medical University of Vienna, Vienna, Austria.

Ingrid Simonitsch-Klupp (I)

Department of Pathology, Medical University of Vienna, Vienna, Austria.

Gregor Kasprian (G)

Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.

Sigrid Klotz (S)

Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna and Austrian Reference Center for Human Prion Diseases (ÖRPE), AKH Leitstelle 4J, Waehringer Guertel 18-20, 1090, Vienna, Austria.

Romana Höftberger (R)

Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna and Austrian Reference Center for Human Prion Diseases (ÖRPE), AKH Leitstelle 4J, Waehringer Guertel 18-20, 1090, Vienna, Austria.

Herbert Budka (H)

Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna and Austrian Reference Center for Human Prion Diseases (ÖRPE), AKH Leitstelle 4J, Waehringer Guertel 18-20, 1090, Vienna, Austria.

Gabor G Kovacs (GG)

Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, ON, Canada.
Department of Laboratory Medicine and Pathobiology and Department of Medicine, University of Toronto, Toronto, ON, Canada.
Laboratory Medicine Program & Krembil Brain Institute, University Health Network, Toronto, ON, Canada.

Isidre Ferrer (I)

Department of Pathology and Experimental Therapeutics, University of BarcelonaBellvitge University Hospital-IDIBELLCIBERNED, Barcelona, Spain.

Sabina Capellari (S)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 1/8, 40139, Bologna, Italy.
Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.

Raquel Sanchez-Valle (R)

Neurological Tissue Bank of the Biobank-Hospital Clinic-IDIBAPS, Barcelona, Spain.
Neurology Department, Alzheimer Disease and Other Cognitive Disorders Unit, Hospital Clinic de Barcelona, Barcelona, Spain.

Piero Parchi (P)

IRCCS Istituto delle Scienze Neurologiche di Bologna, Via Altura 1/8, 40139, Bologna, Italy. piero.parchi@unibo.it.
Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. piero.parchi@unibo.it.

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Classifications MeSH