Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases

Creutzfeldt-Jakob disease (CJD) is usually sporadic, but 10–15% of cases are caused by autosomal-dominant pathogenic variants in the prion protein gene (PRNP). A few PRNP variants show low penetrance. We report the case of a 64-year-old man, admitted to the ward with acute onset of aphasia; death oc...

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Detalles Bibliográficos
Autores principales: Gandoglia, Ilaria, Strada, Laura, Poleggi, Anna, Castaldi, Antonio, Del Sette, Massimo, Di Maria, Emilio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855849/
https://www.ncbi.nlm.nih.gov/pubmed/35167423
http://dx.doi.org/10.1080/19336896.2022.2035479

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855849/
https://www.ncbi.nlm.nih.gov/pubmed/35167423
http://dx.doi.org/10.1080/19336896.2022.2035479

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