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Folia Neuropathol. 2000;38(4):164-6.

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

Author information

1
Department of Molecular Biology, Medical Academy Lódź, 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.

PMID:
11693719
[Indexed for MEDLINE]

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