Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.

Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes.

The assessment of pathogenic prions in the brains of eye tissue donors: 2-years experience in the Czech Republic.

Purpose: The aim of this study was to assess the presence of pathogenic prions in the brain tissue of eye donors and to evaluate the benefits of 2-year obligatory testing in the Czech Republic.

Methods: Brain tissue was retrieved during autopsies of eye donors of 3 tissue banks in the Czech Republic. The frozen specimens obtained from the frontal lobe were transported to the Czech National Reference Laboratory for the diagnosis of human prion disorders.