Abstract
Human transmissible spongiform encephalopathies or prion diseases are a group of fatal neurodegenerative disorders that includes kuru, Creutzfeldt-Jakob (CJD), and Gerstmann-Sträussler-Scheinker (GSS) diseases; sporadic and familial fatal insomnia (FI); and variably protease-sensitive prionopathy (VPSPr).
Human prion diseases can be divided etiologically into:Inherited forms: familial CJD (fCJD), familial FI (fFI), GSS
Sporadic forms: sporadic CJD (sCJD), sporadic FI (sFI), VPSPr
Acquired forms: iatrogenic CJD (iCJD), variant CJD (vCJD), kuru
Phenotypically heterogeneous fatal neurodegenerative disorders are characterized by cognitive decline; cerebellar, pyramidal, extrapyramidal, sensory, or psychiatric disturbances; myoclonus; and seizures.
Outcome is invariably fatal. Mean survival varies from few months to several years.
The most relevant modifiers of prognosis are age at onset, sex, prion protein genotype, and the type of PrPSc. Additional elements come from laboratory tests and EEG findings.
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Di Fede, G., Tagliavini, F. (2015). Prion Diseases. In: Sghirlanzoni, A., Lauria, G., Chiapparini, L. (eds) Prognosis of Neurological Diseases. Springer, Milano. https://doi.org/10.1007/978-88-470-5755-5_10
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DOI: https://doi.org/10.1007/978-88-470-5755-5_10
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