Biochemical and Neuropathological Findings in a Creutzfeldt–Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene

Biochemical and Neuropathological Findings in a Creutzfeldt–Jakob Disease Patient with the Rare Val180Ile-129Val Haplotype in the Prion Protein Gene

Genetic Creutzfeldt–Jakob disease (gCJD) associated with the V180I mutation in the prion protein (PrP) gene (<i>PRNP</i>) in phase with residue 129M is the most frequent cause of gCJD in East Asia, whereas it is quite uncommon in Caucasians. We report on a gCJD patient with the rare V180...

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Bibliographic Details
Main Authors: Gianluigi Zanusso, Elisa Colaizzo, Anna Poleggi, Carlo Masullo, Raffaello Romeo, Sergio Ferrari, Matilde Bongianni, Michele Fiorini, Dorina Tiple, Luana Vaianella, Marco Sbriccoli, Flavia Porreca, Michele Equestre, Maurizio Pocchiari, Franco Cardone, Anna Ladogana
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:International Journal of Molecular Sciences
Subjects:
Creutzfeldt–Jakob disease
prion disease
neuropathology
prion protein
Val180Ile mutation
RT-QuIC assay
Online Access:https://www.mdpi.com/1422-0067/23/18/10210

Internet

https://www.mdpi.com/1422-0067/23/18/10210

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