Gerstmann–Sträussler–Scheinker syndrome,fatal familial insomnia, and kuru: a review ofthese less common human transmissiblespongiform encephalopathies

@article{Collins2001GerstmannStrusslerScheinkerSF,
  title={Gerstmann–Str{\"a}ussler–Scheinker syndrome,fatal familial insomnia, and kuru: a review ofthese less common human transmissiblespongiform encephalopathies},
  author={Steven John Collins and Catriona Mclean and Colin L. Masters},
  journal={Journal of Clinical Neuroscience},
  year={2001},
  volume={8},
  pages={387-397}
}
Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI) and kuru constitute major human prion disease phenotypes. Each has been successfully transmitted in animal models and all are invariably fatal neurodegenerative disorders, with the brains of affected individuals harbouring variable amounts of an abnormal, protease-resistant form of the prion protein (PrPres), which is inextricably linked to pathogenesis and transmissibility. Classical… 
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Prion diseases and sleep disorders
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Phenotypic variability of fatal familial insomnia (FFI) versus familial Creutzfeldt-Jakob disease178 (fCJD178) seems to determine the different methionine⁃valine polymorphism at codon 129 of the PrP gene.
iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology
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Whether iPS cell-derived neurons could be used to investigate the appearance of disease-related phenotypes (i.e, tauopathy) identified in the GSS patient is tested for the first time.
Genetic PrP Prion Diseases.
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This review classification of genetic prion diseases as rapid, slow, or mixed types based on their typical rate of progression and duration, and the broad spectrum of phenotypes manifested by these diseases are reviewed.
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TLDR
It is shown here that PrP codon 102 is linked to the putative gene for the syndrome in two pedigrees, providing the best evidence to date that this familial condition is inherited despite also being infectious, and that substitution of leucine for proline at PrPcodon 102 may lead to the development of Gerstmann–Sträussler syndrome.
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TLDR
The development of a transmissible spongiform encephalopathy in animals inoculated with brain tissue from affected subjects with mutation at codon 102 suggests that in some formsofgenetically‐determined Gerstmann‐Sträussler‐Scheinker disease, and particularly those characterized by severe spongiosis, amyloidogenesis and production of an infectious “agent” occur concomitantly via mechanisms that are only partially understood.
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TLDR
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