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Article

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

Neurology - 8 Mar 2005

Capellari S, Cardone F, Notari S, Schininà M E, Maras B, Sità D, Baruzzi A, Pocchiari M, Parchi P

Abstract excerpt

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...

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Source

Identifiers

PMID: 15753435
DOI: 10.1212/01.WNL.0000152837.82388.DE

Genes

PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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