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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References
Azzarelli, B. et al. Acta Neuropathol. 65, 235–246 (1985).
Ghetti, B. et al. Neurology 39, 1453–1461 (1989).
Ikeda, S. et al. in AmyloidandAmyloidosis 1990 (eds Natvig, J., Forre, 0., Husby, G., Husebekk, A., Skogen, G., Sletten, K. & Westermark, P.) 737–740 (Kluwer, Dordrecht, The Netherlands, 1991).
Gerstmann, J., Sträussler, E. & Scheinker, I. Z. Neurol. 154, 736–762 (1936).
Schlote, W. et al. Acta Neuropathol. 52, 203–211 (1980).
Adam, J. et al. J. Neurol. Neurosurg. Psychiat. 45, 37–45 (1982).
Tateishi, J. et al. Ann. Neurol. 24, 35–40 (1988).
Nochlin, D. et al. Neurology 39, 910–918 (1989).
Farlow, M.R. et al. Neurology 39, 1446–52 (1989).
Hsiao, K. et al. Nature 338, 342–345 (1989).
Masters, C.L., Gajdusek, D.C. & Gibbs, C.J. Jr., Brain 104, 559–588 (1981).
Prusiner, S.B. Science 216, 136–144 (1982).
Prusiner, S.B. New Engl. J. Med. 317, 1571–1581 (1987).
Prusiner, S.B. Ann. Rev. Microbiol. 43, 345–374 (1989).
Bolton, D.C., McKinley, M.P., Prusiner, S.B. Science 218, 1309–1311 (1982).
McKinley, M.P., Bolton, D.C. & Prusiner, S.B. Cell 35, 57–62 (1983).
Meyer, R.K. et al. Proc. natn. Acad. Sci. U.S.A. 83, 2310–2314 (1986).
Oesch, B. et al. Cell 40, 735–746 (1985).
Sparkes, R.S. et al. Proc. natn. Acad. Sci. U.S.A. 83, 7358–7362 (1986).
Kretzschmar, H.A. et al. DNA 5, 315–324 (1986).
Basler, K. et al. Cell 46, 417–428 (1986).
Hsiao, K. & Prusiner, S.B. Neurology 40, 1820–1827 (1990).
Owen, F. et al. Lancet i, 51–52 (1989).
Doh-ura, K. et al. Biochem. biophys. Res. Commun. 163, 974–979 (1989).
Hsiao, K.K. et al. Neurology 41, 681–684 (1991).
Goldgaber, D. et al. Expl Neurol. 106, 204–206 (1989).
Goldfarb, L.G. et al. Lancet 337, 425 (1991).
Hsiao, K.K. et al. New Engl. J. Med. 324, 1091–1097 (1991).
Brown, P., Goldfarb, L. & Gajdusek, D.C. Lancet 337, 1019–1022 (1991).
Speer, M.C. et al. Genomics 9, 366–368 (1991).
Dloughy, S. et al. Nature Genet. 1, 64–67 (1992).
Tagliavini, F. et al. EMBO J. 10, 513–519 (1991).
Hsiao, K.K. et al. Neurobiol. Aging 11(3), 302 (1990).
Carlson, G.A. et al. Trends Genet. 7, 61–65 (1991).
Giaccone, G. et al. Brain Res. 530, 325–329 (1990).
Giaccone, G. et al. in Alzheimer's Disease: Basic Mechanisms, Diagnosis and Therapeutic Strategies (eds Iqbal, K., McLachlan, D., Winblad, B. & Wisniewski, H.) 207–212 (Wiley, Chichester, UK, 1991).
Saiki, R. et al. Science 239, 487–494 (1988).
Hsiao, K. et al. Science 250, 1587–1590 (1990).
Goldgaber, D. Nature 351, 106 (1991).
Collinge, J., Palmer, M. & Dryden, A. Lancet 337, 1441–1442 (1991).
Tateishi, J. et al. in Prion Diseases of Humans and Animals (eds Prusiner, S.B., Collinge, J., Powell, J. & Anderton, B.) (Ellis Horwood, London, in the press).
Palmer, M.S., Dryden, A.J., Hughes, J.T. & Collinge, J. Nature 352, 340–342.
Glenner, G. & Wong, C. Biochem. biophys. Res. Commun. 120, 885–890 (1984).
Masters, C. et al. Proc. natn. Acad. Sci. U.S.A. 82, 4245–4249 (1985).
Prusiner, S.B. et al. Cell 35, 349–358 (1983).
DeArmond, S., McKinley, M. & Barry, R. Cell 41, 221–235 (1985).
Kitamoto, T., Ogomori, K. & Tateishi, J. Lab. Invest. 57, 230–236 (1986).
Roberts, G., Lofthouse, R. & Brown, R. New Engl. J. Med. 315, 1231–1233 (1986).
Giaccone, G. et al. Neurol. Suppl. 41, 155 (1991).
Ball, M.J. Acta Neuropathol. 37, 111–118 (1976).
Tomlinson, B., Blessed, G. & Roth, M. J. Neurol. Sci. 7, 331–356 (1968).
Tomlinson, B., Blessed, G. & Roth, M. J. Neurol. Sci. 11, 205–242 (1970).
Yi, S. et al. Am. J. Pathol. 138, 403–412 (1991).
Quon, D. et al. Nature 352, 239–241 (1991).
Wirak, D. et al. Science 253, 323–325 (1991).
Goate, A. et al. Nature 349, 704–706 (1991).
Naruse, S. et al. Lancet 337, 978–979 (1991).
Lucotte, G., Berriche, S. & David, F. Nature 351, 530 (1991).
Murrell, J., Farlow, M., Ghetti, B. & Benson, M.D. Science 254, 97–99 (1991).
Chartier-Harlin, M.C. et al. Nature 353, 844–846 (1991).
Biggin, M.D., Gibson, T.J. & Hong, G.F. Proc. natn. Acad. Sci. U.S.A. 80, 3963–3965 (1983).
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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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