title: A new point mutation of the PRNP gene in Gerstmann-Sträussler-Scheinker case in Poland.
abstract: We report here a case of Gerstmann-Sträussler-Scheinker (GSS) disease with a new mutation at the codon 232 (Met to Thr) of the PRNP gene. This case was characterized by PrP-immunopositive kuru and multicentric plaques; these plaques were also seen in the cerebral cortex, hippocampus and in the deep subcortical nuclei. Diffuse PrP depositions were also detected. In the temporal cortex, a few plaques were immunopositive for both PrP and Abeta; the latter was expressed at the periphery of the PrP-immunopositive cores. This mutation was absent from 40 healthy Polish controls and from 16 other Polish CJD cases, and we therefore believe that 232Thr is a new pathogenic mutation and not a benign polymorphism.
authors.affiliation: Department of Molecular Biology, Medical Academy Lódź, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Bratosiewicz
authors.forename: M
authors.initials: M
authors.lastname: Barcikowska
authors.forename: L
authors.initials: L
authors.lastname: Cervenakowa
authors.forename: P
authors.initials: P
authors.lastname: Brown
authors.forename: D C
authors.initials: DC
authors.lastname: Gajdusek
authors.forename: P P
authors.initials: PP
authors.lastname: Liberski
mesh_terms: D019943:Amino Acid Substitution; D000682:Amyloid / Q000235:genetics*; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011044:Poland; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*
chemical_list: D000682:Amyloid; D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors