Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene
- 8 March 2005
- journal article
- case report
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 64 (5), 905-907
- https://doi.org/10.1212/01.wnl.0000152837.82388.de
Abstract
The authors investigated a patient who died of apparent sporadic Creutzfeldt-Jakob disease (CJD) but carried a R208H substitution in the prion protein (PrP). The patient phenotype was indistinguishable from typical sporadic CJD (i.e., MM1 subtype). In addition, pathologic PrP, PrPSc, originated from both the normal and the mutated PRNP allele and had the same characteristics as PrPSc type 1. The authors propose that the R208H mutation influences disease susceptibility without significantly affecting PrPSc properties or disease phenotype.Keywords
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