title: An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques.
abstract: We found an amber mutation in the open reading frame of the prion protein (PrP) gene. The codon 145 mutation (tyrosine to stop) was recognized on a PrP allele of a patient with Alzheimer-type clinical course. Pathologic examination revealed many amyloid plaques and neurofibrillary changes. However, the amyloid plaques in this patient were not composed of beta/A4 protein, but of PrP. Both wild and mutant PrP alleles were detected in the cerebral mRNA; however, only C-terminal truncated PrP was detected in the kuru plaques. We herein present evidence that only mutant PrP aggregates to make kuru plaques in the central nervous system.
authors.affiliation: Department of Neuropathology, Kyushu University, Fukuoka, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kitamoto
authors.forename: R
authors.initials: R
authors.lastname: Iizuka
authors.forename: J
authors.initials: J
authors.lastname: Tateishi
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D004247:DNA; D004252:DNA Mutational Analysis; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016366:Open Reading Frames; D018620:PrPSc Proteins; D011328:Prions / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism
chemical_list: D003062:Codon; D009419:Nerve Tissue Proteins; D018620:PrPSc Proteins; D011328:Prions; D012333:RNA, Messenger; D004247:DNA