Hereditary prion protein amyloidoses.
Prion protein (PrP) amyloid accumulation is the pathologic hallmark of some inherited prion diseases such as Gerstmann-Sträussler-Scheinker disease (GSS) and PrP cerebral amyloid angiopathy (PrP-CAA). In GSS, parenchymal amyloidosis may coexist with spongiform degeneration or neurofibrillary tangles, whereas in PrP-CAA, vascular amyloid coexists with neurofibrillary tangles. In GSS, N-truncated and C-truncated proteinase K-resistant PrP isoforms are present in the brain.
Ghetti
Bernardino
B
Department of Pathology and Laboratory Medicine and Indiana Alzheimer Disease Center, Indiana University School of Medicine, 635 Barnhill Drive, MS A128, Indianapolis, IN 46202-5120, USA. bghetti@iupui.edu
Tagliavini
Fabrizio
F
Takao
M
M
Bugiani
Orso
O
Piccardo
Pedro
P
D000682:Amyloid / Q000235:genetics; D000818:Animals; D028243:Cerebral Amyloid Angiopathy, Familial / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D009154:Mutation; D000072002:Prion Proteins; D011328:Prions / Q000145:classification / Q000235:genetics; D011498:Protein Precursors / Q000235:genetics
D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors