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Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene

From Dipartimento di Scienze Neurologiche (Drs. Capellari, Notari, Baruzzi, and Parchi), Università di Bologna; Dipartimento di Biologia Cellulare e Neuroscienze (Drs. Cardone and Pocchiari), Istituto Superiore di Sanità, Rome; Dipartimento di Scienze Biochimiche "A. Rossi Fanelli" (Drs. Schininà and Maras), Università La Sapienza, Rome; and Unità di Neurologia (Dr. Sità), Spedali Riuniti di Pistoia, Italy.

Address correspondence and reprint requests to Dr. P. Parchi, Dipartimento di Scienze Neurologiche, Università di Bologna, Via Foscolo 7, 40123, Bologna, Italy; e-mail: parchi{at}neuro.unibo.it

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.

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