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Article

Phenotypic heterogeneity in inherited prion disease (P102L) is associated with differential propagation of protease-resistant wild-type and mutant prion protein.

Brain : a journal of neurology - 1 Jun 2006

Wadsworth Jonathan D F, Joiner Susan, Linehan Jacqueline M, Cooper Sharon, Powell Caroline, Mallinson Gary, Buckell Jennifer, Gowland Ian, Asante Emmanuel A, Budka Herbert, Brandner Sebastian, Collinge John

Abstract excerpt

Inherited prion diseases are caused by PRNP coding mutations and display marked phenotypic heterogeneity within families segregating the same pathogenic mutation. A proline-to-leucine substitution at prion protein (PrP) residue 102 (P102L), classically associated with the Gerstmann-Sträussler-Scheinker (GSS) phenotype, also shows marked clinical and pathological heterogeneity, including patients with a...

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Identifiers

PMID: 16597650
DOI: 10.1093/brain/awl076

Genes

GSS
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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