Characterization of Anchorless Human PrP With Q227X Stop Mutation Linked to Gerstmann-Sträussler-Scheinker Syndrome In Vivo and In Vitro
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Neurobiology"
DOI: 10.1007/s12035-020-02098-8
Abstract: Alteration in cellular prion protein (PrP C ) localization on the cell surface through mediation of the glycosylphosphatidylinositol (GPI) anchor has been reported to dramatically affect the formation and infectivity of its pathological isoform (PrP… read more here.
Keywords: prp q227x; str ussler; gerstmann str; prp ... See more keywords
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
Sign Up to like & getrecommendations! Published in 2019 at "Neurology"
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
A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles
Sign Up to like & getrecommendations! Published in 2018 at "PLoS Pathogens"
DOI: 10.1371/journal.ppat.1006826
Abstract: To explore pathogenesis in a young Gerstmann-Sträussler-Scheinker Disease (GSS) patient, the corresponding mutation, an eight-residue duplication in the hydrophobic region (HR), was inserted into the wild type mouse PrP gene. Transgenic (Tg) mouse lines expressing… read more here.
Keywords: kda; disease; str ussler; gerstmann str ... See more keywords