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Article

Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity.

Journal of neuropathology and experimental neurology - 1 Mar 2011

Eigenbrod Sabina, Frick Petra, Giese Armin, Schelzke Gabi, Zerr Inga, Kretzschmar Hans A

Abstract excerpt

The genetic forms of human transmissible spongiform encephalopathies (TSEs) are linked to mutations in the gene encoding the prion protein (PRNP) and account for 10% to 15% of human TSE cases. Some are distinct with respect to clinical signs, disease onset/duration, and diagnostic findings, whereas others closely resemble sporadic Creutzfeldt-Jakob disease (sCJD). We report a comprehensive analysis of 4 patients...

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Identifiers

PMID: 21293298
DOI: 10.1097/NEN.0b013e31820cd8a4

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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