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Open Access Highly Accessed Review

An overview of human prion diseases

Muhammad Imran1 and Saqib Mahmood2*

Author Affiliations

1 Department of Physiology and Cell Biology, Centre for Research in Endocrinology and Reproductive Sciences (CRERS), University of Health Sciences (UHS), Khayaban-e-Jamia Punjab, Lahore 54600, Pakistan

2 Department of Human Genetics and Molecular Biology, University of Health Sciences (UHS), Khayaban-e-Jamia Punjab, Lahore 54600, Pakistan

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Virology Journal 2011, 8:559  doi:10.1186/1743-422X-8-559

Published: 24 December 2011

Abstract

Prion diseases are transmissible, progressive and invariably fatal neurodegenerative conditions associated with misfolding and aggregation of a host-encoded cellular prion protein, PrPC. They have occurred in a wide range of mammalian species including human. Human prion diseases can arise sporadically, be hereditary or be acquired. Sporadic human prion diseases include Cruetzfeldt-Jacob disease (CJD), fatal insomnia and variably protease-sensitive prionopathy. Genetic or familial prion diseases are caused by autosomal dominantly inherited mutations in the gene encoding for PrPC and include familial or genetic CJD, fatal familial insomnia and Gerstmann-Sträussler-Scheinker syndrome. Acquired human prion diseases account for only 5% of cases of human prion disease. They include kuru, iatrogenic CJD and a new variant form of CJD that was transmitted to humans from affected cattle via meat consumption especially brain. This review presents information on the epidemiology, etiology, clinical assessment, neuropathology and public health concerns of human prion diseases. The role of the PrP encoding gene (PRNP) in conferring susceptibility to human prion diseases is also discussed.

Keywords:
Prions; Prion diseases; PRNP; TSE; CJD