Mutant prion proteins in gerstmann-sträussler-scheinker disease with neurofibrillary tangles

Karen Hsiao; Stephen R. Dlouhy; Martin R. Farlow; Carin Cass; Maria Da Costa; P. Michael Conneally; M. E. Hodes; Bernardino Ghetti; Stanley B. Prusiner

doi:10.1038/ng0492-68

Mutant prion proteins in gerstmann-sträussler-scheinker disease with neurofibrillary tangles

Karen Hsiao, Stephen R. Dlouhy, Martin R. Farlow, Carin Cass, Maria Da Costa, P. Michael Conneally, M. E. Hodes, Bernardino Ghetti, Stanley B. Prusiner

Neurology

Research output: Contribution to journal › Article › peer-review

206 Scopus citations

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.

Original language	English (US)
Pages (from-to)	68-71
Number of pages	4
Journal	Nature Genetics
Volume	1
Issue number	1
DOIs	https://doi.org/10.1038/ng0492-68
State	Published - Apr 1992

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Mutant prion proteins in gerstmann-sträussler-scheinker disease with neurofibrillary tangles. / Hsiao, Karen; Dlouhy, Stephen R.; Farlow, Martin R.; Cass, Carin; Da Costa, Maria; Conneally, P. Michael; Hodes, M. E.; Ghetti, Bernardino; Prusiner, Stanley B.

In: Nature Genetics, Vol. 1, No. 1, 04.1992, p. 68-71.

Research output: Contribution to journal › Article › peer-review

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title = "Mutant prion proteins in gerstmann-str{\"a}ussler-scheinker disease with neurofibrillary tangles",

abstract = "Two families with Gerstmann-Str{\"a}ussler-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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AU - Cass, Carin

AU - Da Costa, Maria

AU - Conneally, P. Michael

AU - Hodes, M. E.

AU - Ghetti, Bernardino

AU - Prusiner, Stanley B.

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