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Article

Ascertainment bias causes false signal of anticipation in genetic prion disease.

American journal of human genetics - 2 Oct 2014

Minikel Eric Vallabh, Zerr Inga, Collins Steven J, Ponto Claudia, Boyd Alison, Klug Genevieve, Karch André, Kenny Joanna, Collinge John, Takada Leonel T, Forner Sven, Fong Jamie C, Mead Simon, Geschwind Michael D

Abstract excerpt

Anticipation is the phenomenon whereby age of onset in genetic disease decreases in successive generations. Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease (CJD) caused by the c.598G > A mutation in PRNP encoding a p.Glu200Lys (E200K) substitution in the prion protein. If confirmed, this finding would carry clear implications for genetic counseling. We analyzed pedigrees with this...

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Identifiers

PMID: 25279981
DOI: 10.1016/j.ajhg.2014.09.003
PMCID: PMC4185115

Genes

PRNP

Variants

Provenance

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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