NR ATZK
AU Capellari,S.; Cardone,F.; Notari,S.; Schinina,M.E.; Maras,B.; Sita,D.; Baruzzi,A.; Pocchiari,M.; Parchi,P.
TI Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene
QU Neurology 2005 Mar 8; 64(5): 905-7
PT case reports; journal article
AB 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.
MH 14-3-3 Proteins/cerebrospinal fluid; Amino Acid Substitution/genetics; Brain/metabolism/*pathology/physiopathology; Creutzfeldt-Jakob Syndrome/*genetics/*pathology/physiopathology; DNA Mutational Analysis; Disease Progression; Fatal Outcome; Female; Genetic Predisposition to Disease/*genetics; Genotype; Homozygote; Humans; Immunoblotting; Immunohistochemistry; Methionine/genetics; Middle Aged; Mutation/*genetics; Neurons/metabolism/pathology; Phenotype; PrPsc Proteins/*genetics/metabolism; Research Support, Non-U.S. Gov't; Spectrum Analysis, Mass
AD Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna, Italy.
SP englisch
PO USA