Hereditary prion protein amyloidoses

Clin Lab Med. 2003 Mar;23(1):65-85, viii. doi: 10.1016/s0272-2712(02)00064-1.

Abstract

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Amyloid / genetics
  • Animals
  • Cerebral Amyloid Angiopathy, Familial / genetics
  • Cerebral Amyloid Angiopathy, Familial / pathology*
  • Cerebral Amyloid Angiopathy, Familial / physiopathology
  • Gerstmann-Straussler-Scheinker Disease / genetics
  • Gerstmann-Straussler-Scheinker Disease / pathology*
  • Gerstmann-Straussler-Scheinker Disease / physiopathology
  • Humans
  • Mutation
  • Prion Proteins
  • Prions / classification
  • Prions / genetics
  • Protein Precursors / genetics

Substances

  • Amyloid
  • PRNP protein, human
  • Prion Proteins
  • Prions
  • Protein Precursors