A new point mutation of the PRNP gene in Gerstmann-Straussler-Scheinker case in Poland

We report here a case of Gerstmann-Straussler-Scheinker (GSS) disease wi th 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 PIP and A beta; 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 CTD cases, and we therefore believe that 232Thr is a new pathogenic mutation and not a benign polymorphism.