Human Prion Diseases: From Kuru to Variant Creutzfeldt-Jakob Disease
Transmissible spongiform encephalopathies (TSEs) or prion diseases are the names given to the group of fatal neurodegenerative disorders that includes kuru, Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease (GSS), fatal and sporadic
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Human Prion Diseases: From Kuru to Variant Creutzfeldt-Jakob Disease Beata Sikorska and Pawel P. Liberski
Abstract Transmissible spongiform encephalopathies (TSEs) or prion diseases are the names given to the group of fatal neurodegenerative disorders that includes kuru, Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker disease (GSS), fatal and sporadic familial insomnia and the novel prion disease variable proteasesensitive prionopathy (PSPr) in humans. Kuru was restricted to natives of the Foré linguistic group in Papua New Guinea and spread by ritualistic endocannibalism. CJD appears as sporadic, familial (genetic or hereditary) and infectious (iatrogenic) forms. Variant CJD is a zoonotic CJD type and of major public health importance, which resulted from transmission from bovine spongiform encephalopathy (BSE) through ingestion of contaminated meat products. GSS is a slowly progressive hereditary autosomal dominant disease and the first human TSE in which a mutation in a gene encoding for prion protein (PrP) was discovered. The rarest human prion disease is fatal insomnia, which may occur, in genetic and sporadic form. More recently a novel prion disease variable protease-sensitive prionopathy (PSPr) was described in humans.TSEs are caused by a still incompletely defined infectious agent known as a “prion” which is widely regarded to be an aggregate of a misfolded isoform (PrPSc ) of a normal cellular glycoprotein (PrPc ). The conversion mechanism of PrPc into PrPSc is still not certain. Keywords Prion diseases · Transmissible spongiform encephalopathies · Kuru · Creutzfeldt-Jakob disease · Gerstmann-Sträussler-Scheinker disease · Fatal familial insomnia · Prion protein · Neuropathology · Electron microscopy
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Introduction
Transmissible spongiform encephalopathies (TSEs) or prion diseases are the names now given to the group of fatal neurodegenerative disorders that includes kuru (Gajdusek et al. 1966), Creutzfeldt-Jakob disease (CJD; Gibbs et al. 1968), B. Sikorska () · P. P. Liberski Department of Molecular Pathology and Neuropathology, Chair of Oncology, Medical University of Lodz, Czechoslowacka st. 8/10, 92-216 Lodz, Poland e-mail: [email protected] P. P. Liberski [email protected] J. R. Harris (ed.), Protein Aggregation and Fibrillogenesis in Cerebral 457 and Systemic Amyloid Disease, Subcellular Biochemistry 65, DOI 10.1007/978-94-007-5416-4_17, © Springer Science+Business Media Dordrecht 2012
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B. Sikorska and P. P. Liberski
Gerstmann-Sträussler-Scheinker disease (GSS; Masters et al. 1981), fatal familial insomnia (Lugaresi et al. 1986; Medori et al. 1992) and the novel prion disease variable protease-sensitive prionopathy (PSPr) in humans (Gambetti et al. 2008; Head et al. 2009a; Rodriguez-Martinez et al. 2010). TSEs are caused by a still incompletely defined infectious agent known as a “prion” which is widely regarded to be an aggregate of an misfolded isoform (PrPSc ) of a normal cellular glycoprotein (PrPc ). The conversion mechanism of PrPc into PrPSc is still
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