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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… Click to show full 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.
Keywords:
presentation;
ussler scheinker;
scheinker disease;
disease;
str ussler;
gerstmann str
Journal Title: BMJ Case Reports
Year Published: 2017
Link to full text (if available)
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Journal Title: BMJ Case Reports
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!