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familial prion diseases

Tuesday 22 April 2008

Familial Creutzfeldt–Jakob disease, Gerstmann–Sträussler–Scheinker disease, and fatal familial insomnia are all dominantly inherited prion diseases caused by mutations in the prion protein gene (PRNP).


- Creutzfeldt-Jacob disease (CJD) (MIM.123400)
- Gerstmann- Straussler-Scheinker syndrome (GSS) (MIM.137440)
- familial atypical spongiform encephalopathy (FASE)
- familial fatal insomnia (MIM.600072)

Microscopical synopsis

- spongiform encephalopathy
- neuronal loss
- gliosis
- Proteinase resistant form of PrP: synaptic or extracellular amyloid deposits.