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, PrP(Sc), originated from both the normal and the mutated PRNP allele and had the same characteristics as PrP(Sc) type 1. The authors propose that the R208H mutation influences disease susceptibility without significantly affecting PrP(Sc) properties or disease phenotype.
S. Capellari, F. Cardone, S. Notari, M. E. Schininà, B. Maras, D. Sità, et al. (2005). Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. NEUROLOGY, 64 (5), 905-907.
Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene
CAPELLARI, SABINA;NOTARI, SILVIO;BARUZZI, AGOSTINO;PARCHI, PIERO
2005
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, PrP(Sc), originated from both the normal and the mutated PRNP allele and had the same characteristics as PrP(Sc) type 1. The authors propose that the R208H mutation influences disease susceptibility without significantly affecting PrP(Sc) properties or disease phenotype.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
