Dictionary of Human Evolution and Biology

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Familial Fatal Insomnia

Hereditary autosomal dominant disorder characterized by tremors, progressive insomnia and a dream-like state, progressing to coma and death; duration averages 13 months. Like Creutzfeldt-Jakob disease, FFI is associated with homozygosity at position 129 (for valine, in this case) and the folding mutation at position 178 in native prion protein (PrPc). It is likely that yet another mutation specific to FFI is responsible for its activity, as the FFI form of prion affects a different area of the brain, the thalamus.

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