Among genetically determined neurodegenerative diseases, the dominantly inherited prion
protein cerebral amyloidoses are characterized by deposition of amyloid in cerebral
parenchyma or blood vessels. Among them, Gerstmann–Sträussler–Scheinker disease has
been the first to be described. Their clinical, neuropathologic, and molecular phenotypes are
distinct from those observed in Creutzfeldt–Jakob disease (CJD) and related spongiform
encephalopathies. It is not understood why specific mutations in the prion protein gene …