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Article

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.

Brain : a journal of neurology - 1 Oct 2008

Webb T E F, Poulter M, Beck J, Uphill J, Adamson G, Campbell T, Linehan J, Powell C, Brandner S, Pal S, Siddique D, Wadsworth J D, Joiner S, Alner K, Petersen C, Hampson S, Rhymes C, Treacy C, Storey E, Geschwind M D, Nemeth A H, Wroe S, Collinge J, Mead S

Abstract excerpt

The largest kindred with inherited prion disease P102L, historically Gerstmann-Sträussler-Scheinker syndrome, originates from central England, with émigrés now resident in various parts of the English-speaking world. We have collected data from 84 patients in the large UK kindred and numerous small unrelated pedigrees to investigate phenotypic heterogeneity and modifying factors. This collection represents by far...

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Identifiers

PMID: 18757886
DOI: 10.1093/brain/awn202
PMCID: PMC2570713

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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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