title: Gerstmann-Sträussler-Scheinker disease. I. Human diseases.
abstract: Gerstmann-Sträussler-Scheinker disease (GSS) is a slowly progressive hereditary autosomal dominant disease (OMIM: 137440) and the first human transmissible spongiform encephalopathy (TSE) in which a mutation in a gene encoding for prion protein (PrP) was discovered. Its true prevalence is difficult to estimate but figures within the range of 1-10/100,000,000 are quoted. GSS is defined as a neurodegenerative disease "in family with dominantly inherited progressive ataxia and/or dementia): encephalo(myelo)pathy with multi-centric PrP plaques". In this review, we summarise data on all the families with GSS. The hallmark of the GSS neuropathology is the multi-centric plaque but the pattern varies between families. In the second part of this review the experimental data using experimental models of GSS in transgenic mice are summarised as well as structural biology of mutated PrP in GSS.
authors.affiliation: Department of Molecular Pathology and Neuropathology, Medical University of Lódź, Poland. ppliber@csk.am.lodz.pl
authors.forename: Paweł P
authors.initials: PP
authors.lastname: Liberski
authors.forename: Herbert
authors.initials: H
authors.lastname: Budka
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D051379:Mice; D009154:Mutation; D000072002:Prion Proteins; D011328:Prions / Q000737:chemistry* / Q000145:classification* / Q000235:genetics; D011498:Protein Precursors / Q000235:genetics
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; C512657:Prnp protein, mouse; D011498:Protein Precursors