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Rare disease
CASE REPORT
Gerstmann-Sträussler-Scheinker disease with atypical presentation
  1. Sarah E Keuss1,
  2. James W Ironside2,
  3. Jonathan O’Riordan1
  1. 1Department of Neurology, Ninewells Hospital, Dundee, Tayside, UK
  2. 2Department of Clinical Brain Sciences, National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Edinburgh, UK
  1. Correspondence to Dr Jonathan O’Riordan, joriordan{at}nhs.net

Summary

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.

  • neurogenetics
  • neurology
  • public health
  • pathology

https://doi.org/10.1136/bcr-2017-220907

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    Footnotes

    • Contributors JOR cared for the patient. JWI helped establish a pathological diagnosis. SEK wrote the initial draft of the manuscript. All authors critically revised the manuscript and approved it before submission.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.