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Article

Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment.

Acta neuropathologica - 1 Apr 2005

Roeber Sigrun, Krebs Bjarne, Neumann Manuela, Windl Otto, Zerr Inga, Grasbon-Frodl Eva-Maria, Kretzschmar Hans A

Abstract excerpt

A case of Creutzfeldt-Jakob disease (CJD) with a rare mutation of the prion protein (PrP) gene (PRNP) at codon 208 (R208H) is described. By comparison with two preceding reports, the case described here displayed two distinct biochemical and neuropathological features. Western blot analysis of brain homogenates showed, in addition to the commonly observed three bands of abnormal protease-resistant PrP isoform...

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Source

Identifiers

PMID: 15739100
DOI: 10.1007/s00401-004-0978-0

Genes

PRNP

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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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