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Prion diseases 

Prion diseases
Chapter:
Prion diseases
DOI:
10.1093/med/9780198729228.003.0104
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date: 26 June 2019

Prion diseases (PDs) or transmissible spongiform encephalopathies (TSEs) are a group of progressive central nervous system (CNS) degenerative diseases affecting both humans and animals. This chapter focuses on human PDs, including bovine spongiform encephalopathy (BSE),the only non-human form of the illness currently thought to be transmissible to humans. PDs are characterized by a long incubation period, with multifocal spongiform changes, astrogliosis, neuronal loss, accumulation of an abnormal form of prion protein in the CNS, and the absence of an inflammatory reaction. The current theory is that PDs are associated with the accumulation of an abnormal form of a host cell protein; the normal form is designated PrPc, and the abnormal form is designated PrPSc (for scrapie). Five human PDs are currently recognized: kuru, Creutzfeldt–Jakob disease (CJD), variant CJD (vCJD), Gerstmann–Sträussler–Scheinker syndrome (GSS), and fatal familial insomnia (FFI). They occur via three mechanisms: acquired (infectious/transmitted), spontaneous, or genetic. Sporadic CJD (sCJD) accounts for the majority of the cases (85–90%). All PDs are relentlessly progressive and usually cause death within 1 year of onset. The only exception is GSS, which has an average duration of 5–6 years. Brain biopsy is the gold standard test for diagnosis, although the combination of specific clinical symptoms, findings on magnetic resonance imaging, electroencephalography, and cerebrospinal fluid can be helpful in establishing PD as the probable diagnosis. There is no known treatment for PDs, which are universally fatal.

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