Gerstmann-Sträussler-Scheinker disease with atypical presentation

Sarah E. Keuss, James W. Ironside, Jonathan O'Riordan (Lead / Corresponding author)

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    1 Citation (Scopus)


    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.

    Original languageEnglish
    Number of pages3
    JournalBMJ Case Reports
    Publication statusPublished - 1 Nov 2017


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