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Article

A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.

Journal of neuropathology and experimental neurology - 1 Aug 2011

Jansen Casper, Parchi Piero, Capellari Sabina, Strammiello Rosaria, Dopper Elise G P, van Swieten John C, Kamphorst Wouter, Rozemuller Annemieke J M

Abstract excerpt

A rare case of Gerstmann-Sträussler-Scheinker disease in a 36-year-old Dutch man is reported. The clinical phenotype was characterized by slowly progressive cognitive decline, later followed by ataxia and parkinsonism. Neuropathologic findings consisted of numerous amyloid plaques in the cerebellum, which showed positive staining for the abnormal prion protein (PrP(Sc)). In addition, there were tau accumulations...

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PMID: 21760536
DOI: 10.1097/NEN.0b013e3182270c54

Genes

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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