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Case Reports
Journal Article
Gerstmann-Sträussler-Scheinker disease with atypical presentation.
BMJ Case Reports 2017 November 2
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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