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Article

Predictive testing for inherited prion disease: report of 22 years experience.

European journal of human genetics : EJHG - 1 Dec 2014

Owen Jane, Beck Jon, Campbell Tracy, Adamson Gary, Gorham Michele, Thompson Andrew, Smithson Sarah, Rosser Elizabeth, Rudge Peter, Collinge John, Mead Simon

Abstract excerpt

The inherited prion diseases (IPD) are a group of untreatable neurodegenerative diseases that segregate as autosomal dominant traits. Mutations in the prion protein gene (PRNP) were first found to be causal of IPD in 1989, before the molecular genetic characterisation of any other neurodegenerative disease. Predictive testing for IPD has subsequently been carried out at a single UK clinical and research centre...

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Identifiers

PMID: 24713662
DOI: 10.1038/ejhg.2014.42
PMCID: PMC4091984

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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