Gerstmann-Sträussler-Scheinker disease with atypical presentation

Sarah E. Keuss; James W. Ironside; Jonathan O'Riordan

doi:10.1136/bcr-2017-220907

Gerstmann-Sträussler-Scheinker disease with atypical presentation

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

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

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.

Original language	English
Number of pages	3
Journal	BMJ Case Reports
Volume	2017
DOIs	https://doi.org/10.1136/bcr-2017-220907
Publication status	Published - 1 Nov 2017

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title = "Gerstmann-Str{\"a}ussler-Scheinker disease with atypical presentation",

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.",

author = "Keuss, {Sarah E.} and Ironside, {James W.} and Jonathan O'Riordan",

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AU - Keuss, Sarah E.

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AU - O'Riordan, Jonathan

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PY - 2017/11/1

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N2 - 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.

AB - 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.

U2 - 10.1136/bcr-2017-220907

DO - 10.1136/bcr-2017-220907

M3 - Article

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SN - 1757-790X

VL - 2017

JO - BMJ Case Reports

JF - BMJ Case Reports

ER -

Gerstmann-Sträussler-Scheinker disease with atypical presentation

Abstract

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