Human Prion Diseases in the Czech Republic –  10 Years of Experience with the Diagnosis

Authors: Z. Rohan 1;  E. Parobková 1;  S. Johanidesová 2;  F. Koukolík 1;  R. Matěj 1;  R. Rusina 2
Authors‘ workplace: Thomayerova nemocnice, Praha Národní referenční laboratoř lidských TSE/CJN při oddělení patologie a molekulární medicíny 1;  Thomayerova nemocnice, Praha Neurologické oddělení 2
Published in: Cesk Slov Neurol N 2013; 76/109(3): 300-306
Category: Review Article


Human prion diseases are rare neurodegenerative diseases. Since 2001, their diagnosis in the Czech Republic is performed at the National Reference Laboratory for human TSE/ CJD, a part of the Department of Pathology and Molecular Medicine, Thomayer Hospital in Prague. The most common is the sporadic form of Creutzfeldt‑ Jakob disease with 111 diagnosed definitive cases during 2002–2012. In addition, an increasing number of genetic forms is being diagnosed, with 24 confirmed cases during 2002–2012. Three cases of Gerstmann‑Sträussler‑ Scheinker syndrome were confirmed in 2009 a 2012. No case of new variant CJD has been diagnosed in the Czech Republic yet. Since 2007, the laboratory also performs obligatory testing of cornea transplant donors. This article recapitulates the ten years of existence of the National Reference Laboratory and summarizes human prion disease incidence and diagnosis in the Czech Republic.

Key words:
prion diseases – Creutzfeldt-Jakob disease – neuropathology – diagnostics


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