Cerebral amyloidosis: amyloid subunits, mutants and phenotypes

Cell Mol Life Sci. 2010 Feb;67(4):581-600. doi: 10.1007/s00018-009-0182-4. Epub 2009 Nov 7.

Abstract

Cerebral amyloid diseases are part of a complex group of chronic and progressive entities bracketed together under the common denomination of protein folding disorders and characterized by the intra- and extracellular accumulation of fibrillar aggregates. Of the more than 25 unrelated proteins known to produce amyloidosis in humans only about a third of them are associated with cerebral deposits translating in cognitive deficits, dementia, stroke, cerebellar and extrapyramidal signs, or a combination thereof. The familial forms reviewed herein, although infrequent, provide unique paradigms to examine the role of amyloid in the mechanism of disease pathogenesis and to dissect the link between vascular and parenchymal amyloid deposition and their differential contribution to neurodegeneration.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amyloid / genetics
  • Amyloid / metabolism*
  • Amyloid beta-Peptides / genetics
  • Amyloid beta-Peptides / metabolism
  • Amyloidosis / genetics
  • Amyloidosis / metabolism*
  • Amyloidosis / pathology
  • Brain / metabolism*
  • Brain / pathology
  • Brain Diseases / genetics
  • Brain Diseases / metabolism*
  • Brain Diseases / pathology
  • Humans
  • Mutation
  • Pedigree
  • Protein Folding

Substances

  • Amyloid
  • Amyloid beta-Peptides