Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and paresthesia, pure dementia GSS, and Creutzfeldt-Jakob disease-like GSS); GSS may be more common than previously estimated. In making a clinical diagnosis or progression estimates of GSS, magnetic resonance imaging and real-time quaking-induced conversion may be helpful, but the results should be evaluated with respect to the overall clinical context. ANN NEUROL 2019;86:643-652.

Applied Neuroscience Research Group Central European Institute of Technology Masaryk University Brno

Department of Biology and Medical Genetics 2nd Faculty of Medicine Charles University and Motol University Hospital Prague Czech Republic

Department of Neurology 2nd Faculty of Medicine Charles University and Motol University Hospital Prague

Department of Neurology 3rd Faculty of Medicine Charles University and Thomayer Hospital Prague

Department of Neurology Faculty of Medicine Masaryk University and Saint Anne's University Hospital Brno

Department of Pathology 1st Faculty of Medicine Charles University and General University Hospital Prague

Department of Pathology 3rd Faculty of Medicine Charles University and Kralovske Vinohrady University Hospital Prague

Department of Pathology and Molecular Medicine 3rd Faculty of Medicine Charles University and Thomayer Hospital Prague

Department of Radiology Na Homolce Hospital Prague

Faculty of Nuclear Sciences and Physical Engineering Czech Technical University Prague

International Clinical Research Center St Anne's University Hospital Brno Brno

The Department of Neurology and Center of Clinical Neuroscience 1st Faculty of Medicine Charles University and General University Hospital Prague

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