title: Chromosome 13 dementias.
abstract: The importance of cerebral amyloid deposition in the mechanism of neurodegeneration is still debatable. Classic arguments are usually centered on amyloid beta(Abeta) and its role in the neuronal loss characteristic of Alzheimer's disease, the most common form of human cerebral amyloidosis. Two non-Abeta cerebral amyloidoses, familial British and Danish dementias (FBD and FDD), share many aspects of Alzheimer's disease, including the presence of neurofibrillary tangles, parenchymal preamyloid and amyloid deposits, cerebral amyloid angiopathy and a variety of amyloid-associated proteins and inflammatory components. Both early-onset conditions are linked to specific mutations at or near the stop codon of the chromosome 13 gene BRI2 that cause generation of longer-than-normal protein products. Furin-like processing of these longer precursors releases two de novo-created peptides, ABri and ADan, which deposit as amyloid fibrils in FBD and FDD, respectively. Due to the similar pathology generated by completely unrelated amyloid subunits, FBD and FDD, collectively referred to as chromosome 13 dementias, constitute alternative models for studying the role of amyloid deposition in the mechanism of neuronal cell death.
authors.affiliation: Department of Pathology, New York University School of Medicine, New York 10016, USA. rostaa02@popmail.med.nyu.edu
authors.forename: A
authors.initials: A
authors.lastname: Rostagno
authors.forename: Y
authors.initials: Y
authors.lastname: Tomidokoro
authors.forename: T
authors.initials: T
authors.lastname: Lashley
authors.forename: D
authors.initials: D
authors.lastname: Ng
authors.forename: G
authors.initials: G
authors.lastname: Plant
authors.forename: J
authors.initials: J
authors.lastname: Holton
authors.forename: B
authors.initials: B
authors.lastname: Frangione
authors.forename: T
authors.initials: T
authors.lastname: Revesz
authors.forename: J
authors.initials: J
authors.lastname: Ghiso
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000682:Amyloid / Q000235:genetics / Q000378:metabolism*; D000818:Animals; D016657:Cerebral Amyloid Angiopathy / Q000235:genetics / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003704:Dementia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000378:metabolism; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D051379:Mice; D009154:Mutation; D021122:Protein Subunits / Q000235:genetics / Q000378:metabolism
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000682:Amyloid; C120083:ITM2B protein, human; C492300:Itm2b protein, mouse; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D021122:Protein Subunits