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Article

Rare structural genetic variation in human prion diseases.

Neurobiology of aging - 1 May 2015

Lukic Ana, Uphill James, Brown Craig A, Beck John, Poulter Mark, Campbell Tracy, Adamson Gary, Hummerich Holger, Whitfield Jerome, Ponto Claudia, Zerr Inga, Lloyd Sarah E, Collinge John, Mead Simon

Abstract excerpt

Prion diseases are a diverse group of neurodegenerative conditions, caused by the templated misfolding of prion protein. Aside from the strong genetic risk conferred by multiple variants of the prion protein gene (PRNP), several other variants have been suggested to confer risk in the most common type, sporadic Creutzfeldt-Jakob disease (sCJD) or in the acquired prion diseases. Large and rare copy number variants...

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Source

Identifiers

PMID: 25726360
DOI: 10.1016/j.neurobiolaging.2015.01.011

Genes

PRNP
APP

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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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