title: Cerebral amyloidosis: amyloid subunits, mutants and phenotypes.
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.
authors.affiliation: Department of Pathology, New York University School of Medicine, New York, NY 10016, USA. agueda.rostagno@nyumc.org
authors.forename: A
authors.initials: A
authors.lastname: Rostagno
authors.forename: J L
authors.initials: JL
authors.lastname: Holton
authors.forename: T
authors.initials: T
authors.lastname: Lashley
authors.forename: T
authors.initials: T
authors.lastname: Revesz
authors.forename: Jorge
authors.initials: J
authors.lastname: Ghiso
mesh_terms: D000682:Amyloid / Q000235:genetics / Q000378:metabolism*; D016229:Amyloid beta-Peptides / Q000235:genetics / Q000378:metabolism; D000686:Amyloidosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D009154:Mutation; D010375:Pedigree; D017510:Protein Folding
chemical_list: D000682:Amyloid; D016229:Amyloid beta-Peptides