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 (PRNP) 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 V180I-129V haplotype, s...

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Detalles Bibliográficos
Autores principales: Zanusso, Gianluigi, Colaizzo, Elisa, Poleggi, Anna, Masullo, Carlo, Romeo, Raffaello, Ferrari, Sergio, Bongianni, Matilde, Fiorini, Michele, Tiple, Dorina, Vaianella, Luana, Sbriccoli, Marco, Porreca, Flavia, Equestre, Michele, Pocchiari, Maurizio, Cardone, Franco, Ladogana, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9499355/
https://www.ncbi.nlm.nih.gov/pubmed/36142123
http://dx.doi.org/10.3390/ijms231810210

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