An overview of human prion diseases

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.

Nodding syndrome in Mundri county, South Sudan: Environmental, nutritional and infectious factors

“…As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur. 79 Since this is a different clinical picture from Nodding Syndrome, a prion infection is an unlikely etiology for Nodding Syndrome.…”

Susceptibility of Domestic Cats to Chronic Wasting Disease

“…A plausible route for interspecies transmission of prion diseases is via breach of mucosal surfaces during ingestion of infectious prions found in carcasses, their by-products, and in the environment. Precedence for prion trans-species transmission has been well documented with vCJD, FSE, and TME (4,33). Studies have also demonstrated that prion diseases can be orally transmitted to many species: i.e., CWD to voles (34), Peromyscus mice (34), and ferrets (35), scrapie to squirrel monkeys (36) and hamsters (37)(38)(39)(40), BSE to sheep (41)(42)(43), goats (41), cynomolgus macaques (44,45), and lemurs (46), and CJD and Kuru to squirrel monkeys (36), with some requiring prior in vivo or in vitro adaptation.…”

Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease

“…1 About 85% of all CJD cases are sporadic, 10-15% are inherited and less than 1% is acquired. 2 Normal cellular prion protein (PrP C ) is encoded by PRNP gene that locates at chromosome 20 of humans.…”