Familial spongiform encephalopathy associated with a novel prion protein gene mutation

@article{Nitrini1997FamilialSE,
  title={Familial spongiform encephalopathy associated with a novel prion protein gene mutation},
  author={Ricardo Nitrini and S{\'e}rgio Rosemberg and Maria Rita Passos-Bueno and Lener Santos da Silva and Paula Iughetti and Maria Delivoria Papadopoulos and P. M. Carrilho and Paulo Caramelli and S Albrecht and Mayana Zatz and Andrea C. LeBlanc},
  journal={Annals of Neurology},
  year={1997},
  volume={42}
}
Human prion diseases include Creutzfeldt‐Jakob disease, Gerstmann‐Sträussler‐Scheinker disease, fatal familial insomnia, and kuru. Each of these diseases has a specific clinical presentation while spongiform encephalopathy, neuronal loss, and gliosis are their neuropathological hallmarks. We studied a Brazilian family with an autosomal dominant form of dementia. Nine members of the family were affected by a dementia with frontotemporal clinical features, with a mean age at onset of 44.8 ± 3.8… Expand
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Fatal familial insomnia is a prion disease with a mutation in codon 178 of the PrP gene, but the disease phenotype seems to differ from that of previously described kindreds with the same point mutation. Expand
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It is argued that homozygosity predisposes towards sporadic CJD and that this directly supports the hypothesis that interaction between prion protein molecules underlies the disease process. Expand
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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. Expand
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TLDR
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TLDR
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