Report on the first polish case of the Gerstmann-Sträussler-Scheinker syndrome

In the course of epidemiological studies on Creutzfeldt-Jakob Disease in Poland, the authors found a male patient aged 54 years with dementia rapidly progressing for a year and ataxia of the extremities. EEG tracings were abnormal but without features typical of CJD. About six months after hospitalisation the patient died. Neuropathological examination of his brain demonstrated spongiform lesions of medium intensity present mainly in the cortex of frontal and occipital lobes, with slight proliferation of astroglia. In the cerebellar cortex numerous deposits of PAS-positive substance amorphous or in the shape of kuru plaques were disclosed. A smaller number of these plaques were found in the cortex of occipital and temporal lobes, and in the putamen. All deposits stained strongly with monoclonal 3F4 antibody to human prion protein (PrP). Genetic studies disclosed in the 20th chromosome, in the PrP gene, mutation at codon 102 (P102L). Codon 129 was homozygous for methionine (M129M). It was established, moreover, that patient's father had at the same age a similar disease and died after one year and patient's sister died after a six-year-long neurological disease diagnosed as multiple sclerosis. On the basis of clinical, genetic and neuropathological findings the authors diagnosed the Gerstmann-Sträussler-Scheinker syndrome, a familial prion disease with autosomal dominant character. This is the first report on this syndrome in Poland.