Pedigree analysis and genetic inheritance of fatal familial insomnia (FFI) in a Portuguese multigenerational family
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Fatal familial insomnia (FFI) is a rare, autosomal dominant prion disease caused by a mutation in the PRNP gene, leading to the misfolding of the cellular prion protein (PrPC) into its pathogenic form (PrPSc). This results in neurodegeneration, particularly in... ...