Gerstmann-Sträussler-Scheinker Disease with Atypical Presentation

Overview

Journal BMJ Case Rep

Specialty General Medicine

Date 2017 Nov 3

PMID 29092967

Authors

Sarah E Keuss

James W Ironside

Jonathan ORiordan

Affiliations

Soon will be listed here.

Abstract

We describe a 37-year-old woman who presented with progressive deafness, visual loss and ataxia. She latterly developed neuropsychiatric problems, including cognitive impairment, paranoid delusions and episodes of altered consciousness. She was found to be heterozygous for the Q212P mutation in the prion protein gene. She died over a decade after initial presentation and a diagnosis of prion disease was confirmed at postmortem.

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