A new point mutation of the PRNP gene in Gerstmann-Sträussler-Scheinker case in Poland.
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.
Bratosiewicz
J
J
Department of Molecular Biology, Medical Academy Lódź, Poland.
Barcikowska
M
M
Cervenakowa
L
L
Brown
P
P
Gajdusek
D C
DC
Liberski
P P
PP
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*
D000682:Amyloid; D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors