NR ABQD
AU Bratosiewicz,J.; Barcikowska,M.; Cervenakova,L.; Brown,P.; Gajdusek,D.C.; Liberski,P.P.
TI A new point mutation of the PRNP gene in Gerstmann-Sträussler-Scheinker case in Poland
QU Folia Neuropathologica 2000; 38(4): 164-6
PT journal article
AB 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.
MH *Amino Acid Substitution; Amyloid/*genetics; Case Report; Codon/genetics; DNA Mutational Analysis; Gerstmann-Sträussler-Scheinker Disease/*genetics; Human; Male; Middle Age; *Point Mutation; Poland; Protein Precursors/*genetics
AD Department of Molecular Biology, Medical Academy Lodz, Poland.
SP englisch
PO Polen