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Article

Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.

Brain : a journal of neurology - 1 Sept 2006

Mead Simon, Poulter Mark, Beck Jon, Webb Thomas E F, Campbell Tracy A, Linehan Jacqueline M, Desbruslais Melanie, Joiner Susan, Wadsworth Jonathan D F, King Andrew, Lantos Peter, Collinge John

Abstract excerpt

By far the largest known kindred with an inherited prion disease caused by a prion protein (PrP) octapeptide repeat insertion mutation originates from southeast England. This extended family shows very marked phenotypic heterogeneity and provides a unique opportunity to characterize this diversity and examine possible modifying factors amongst a large number of individuals in whom prion disease has been initiated...

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Identifiers

PMID: 16923955
DOI: 10.1093/brain/awl226

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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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