title: A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.
abstract: Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral hemorrhages. Pathological examination disclosed severe CAA, without parenchymal amyloid plaques or neurofibrillary tangles. This variant highlights the vascular tropism of mutated Abeta, resulting in CAA instead of the pathological hallmarks of AD.
authors.affiliation: Amyloid Center, Biotechnology Research Laboratories, IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Obici
authors.forename: Andrea
authors.initials: A
authors.lastname: Demarchi
authors.forename: Giulia
authors.initials: G
authors.lastname: de Rosa
authors.forename: Vittorio
authors.initials: V
authors.lastname: Bellotti
authors.forename: Sabrina
authors.initials: S
authors.lastname: Marciano
authors.forename: Simona
authors.initials: S
authors.lastname: Donadei
authors.forename: Eloisa
authors.initials: E
authors.lastname: Arbustini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Palladini
authors.forename: Marta
authors.initials: M
authors.lastname: Diegoli
authors.forename: Egidio
authors.initials: E
authors.lastname: Genovese
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Ferrari
authors.forename: Sergio
authors.initials: S
authors.lastname: Coverlizza
authors.forename: Giampaolo
authors.initials: G
authors.lastname: Merlini
mesh_terms: D016229:Amyloid beta-Peptides / Q000378:metabolism; D016564:Amyloid beta-Protein Precursor / Q000235:genetics* / Q000378:metabolism; D015152:Blotting, Northern / Q000379:methods; D001921:Brain / Q000473:pathology; D028243:Cerebral Amyloid Angiopathy, Familial / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D007930:Leucine / Q000235:genetics; D009154:Mutation; D016874:Neurofibrillary Tangles / Q000473:pathology; D010375:Pedigree; D014057:Tomography, X-Ray Computed / Q000379:methods; D014633:Valine / Q000235:genetics
chemical_list: D016229:Amyloid beta-Peptides; D016564:Amyloid beta-Protein Precursor; D007930:Leucine; D014633:Valine