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.
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
Bernardino
B
Ghetti
Fabrizio
F
Tagliavini
M
M
Takao
Orso
O
Bugiani
Pedro
P
Piccardo
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