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Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles

Nature Genetics volume 1, pages 68–71 (1992)Cite this article

Abstract

Two families with Gerstmann-Sträussler-Scheinker disease (GSS) are atypical in possessing neocortical neurofibrillary tangles (NFTs), which are few or absent in other kindreds with GSS, in additon to amyloid plaques that react with prion protein (PrP) antibodies and protease-resistant PrP accumulation in the brain. A leucine substitution at PrP codon 102 has been genetically linked to GSS in some families. We examined the PrP gene in these families. A serine for phenylalanine substitution was found at codon 198 in the Indiana patients; arginine for glutamine substitution at codon 217 in the Swedish patients. These mutations in PrP are the first to be associated with the appear ance of both PrP amyloid plaques and neocortical NFTs in GSS patients.

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Authors and Affiliations

  1. Department of Neurology, University of California, San Francisco, California, 94143-0518, USA

    Karen Hsiao, Carin Cass, Maria Da Costa & Stanley B. Prusiner

  2. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, 46202, USA

    Stephen R. Dlouhy, P. Michael Conneally, M. E. Hodes & Bernardino Ghetti

  3. Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, 46202, USA

    Martin R. Farlow

  4. Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, 46202, USA

    Bernardino Ghetti

  5. Department of Biochemistry and Biophysics, University of California, San Francisco, California, 94143-0518, USA

    Stanley B. Prusiner

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  1. Karen Hsiao
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  2. Stephen R. Dlouhy
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  5. Maria Da Costa
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  8. Bernardino Ghetti
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  9. Stanley B. Prusiner
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Hsiao, K., Dlouhy, S., Farlow, M. et al. Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. Nat Genet 1, 68–71 (1992). https://doi.org/10.1038/ng0492-68

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  • DOI: https://doi.org/10.1038/ng0492-68

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