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

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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Bibliographic Details
Main Authors: Ilaria Gandoglia, Laura Strada, Anna Poleggi, Antonio Castaldi, Massimo Del Sette, Emilio Di Maria
Format: Article
Language:English
Published: Taylor & Francis Group 2022-12-01
Series:Prion
Subjects:
prnp
prion disease
stroke-like onset
genotype
penetrance
risk factor
review
Online Access:http://dx.doi.org/10.1080/19336896.2022.2035479

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