Human prion diseases consist of sporadic, genetic/familial, and acquired forms. The familial form accounts for 5%–15% of all human prion diseases, including familial Creutzfeldt–Jacob disease (fCJD), Gerstmann–Sträussler–Scheinker syndrome, and fatal familial insomnia (FFI) [
1‐
3]. All genetic prion diseases are directly associated with mutations (point-mutation or insertion) in the
PRNP gene located on human chromosome 20 and encodes prion protein (PrP). So far, >55 mutations in the
PRNP gene have been described [
4]. Some
PRNP mutations and their related genetic prion diseases have been reported worldwide, while others show clear region- or ethnicity-associated features. …
