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Article

Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia.

Neurology - 24 Jul 2001

Beck J A, Mead S, Campbell T A, Dickinson A, Wientjens D P, Croes E A, Van Duijn C M, Collinge J

Abstract excerpt

Insertions of integral numbers of an octapeptide repeat in the prion protein gene are pathogenic mutations associated with inherited prion diseases. Conversely, deletions of a single octapeptide repeat are found as normal polymorphisms in many populations and do not predispose individuals to prion disease. The authors report a two-octapeptide repeat deletion in an elderly woman with a rapidly progressive dementia...

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Identifiers

PMID: 11468331
DOI: 10.1212/wnl.57.2.354

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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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