Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Teresa XimelisAlba Marín-MorenoJuan Carlos EspinosaHasier ErañaJorge M CharcoIsabel HernándezCarmen RiveiraDaniel AlcoleaEva González-RocaIban AldecoaLaura Molina-PorcelPiero ParchiMarcello RossiJoaquín CastillaRaquel Ruiz-GarcíaEllen GelpiJuan María TorresRaquel Sanchez-VallePublished in: Alzheimer's research & therapy (2021)
In conclusion, biallelic R136S substitution is a rare variant that produces inherited early-onset human prion disease with a Gerstmann-Sträussler-Scheinker neuropathological and molecular signature. Even if the R136S variant is predicted to be "probably damaging", heterozygous carriers are protected, at least from an early onset providing evidence for a potentially recessive pattern of inheritance in human prion diseases.