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Prion diseases 

Prion diseases
Chapter:
Prion diseases
Author(s):

Simon Mead

, Peter Rudge

, and John Collinge

DOI:
10.1093/med/9780199655946.003.0038
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date: 03 June 2020

Prion diseases are fatal and transmissible neurodegenerative disorders of humans and animals. They are caused by the seeded polymerization of host prion protein into a misfolded form. The human conditions include sporadic and variant Creutzfeldt–Jakob disease, inherited and iatrogenic prion diseases. Generally rapidly progressive in clinical course and involving cognitive and neurological domains, diagnosis is often made late although a range of highly sensitive and specific diagnostic tools are available. Diffusion-weighted MRI brain shows characteristic high signal changes in the basal ganglia, cortex, and thalamus. CSF studies show raised neuronal and glial proteins, and a highly specific test based on the in vitro amplification of abnormal prion protein is becoming clinically available. Genetic analysis is typically done even in the absence of a family history as several partially penetrant mutations are recognized. Several symptomatic treatments may be useful. Early involvement of specialist multidisciplinary services and palliative care are recommended.

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