Gerstmann–Straussler–Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Neurology"
DOI: 10.1111/ene.13447
Abstract: An Italian woman in her mid-20s developed unsteadiness, slow movements and difficulty in speaking. She had a normal birth and developmental milestones. At the age of 29 years, she began to complain of spontaneous and… read more here.
Keywords: gerstmann straussler; prnp p102l; scheinker disease; straussler scheinker ... See more keywords
Gerstmann-Sträussler-Scheinker disease with atypical presentation
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DOI: 10.1136/bcr-2017-220907
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… read more here.
Keywords: presentation; ussler scheinker; scheinker disease; disease ... See more keywords
Pearls & Oy-sters: Challenging diagnosis of Gerstmann-Sträussler-Scheinker disease
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DOI: 10.1212/wnl.0000000000006730
Abstract: Gerstmann-Sträussler-Scheinker disease (GSS) is a rare prion disease characterized by cerebellar ataxia with progressive cognitive decline. read more here.
Keywords: ussler scheinker; str ussler; gerstmann str; disease ... See more keywords