Gerstmann-Sträussler-Scheinker disease with atypical presentation
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Case Reports"
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
Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201321
Abstract: A 58-year-old previously healthy woman presents with 3 years of rapidly progressive ataxia, parkinsonism, dysautonomia, peripheral neuropathy, leg weakness, spasticity, hyperreflexia, and mild vertical-gaze palsy. She has a matrilineal family history of neurodegenerative diseases. She… read more here.
Keywords: deep phenotyping; ussler scheinker; eye movements; gerstmann str ... See more keywords