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Early Diagnosis of V180I Genetic Creutzfeldt-Jakob Disease at the Preserved Cognitive Function Stage

We herein report a case of genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein (PrP) gene diagnosed at a preserved cognitive function stage. Although neuropsychological tests revealed normal cognitive functions, increased signal intensity in the cerebral cortices with...

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Detalles Bibliográficos
Autores principales: Suzuki, Yutaro, Sugiyama, Atsuhiko, Muto, Mayumi, Satoh, Katsuya, Kitamoto, Tetsuyuki, Kuwabara, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9018904/
https://www.ncbi.nlm.nih.gov/pubmed/35475058
http://dx.doi.org/10.7759/cureus.23374