title: Amyloid imaging with AV45 ((18)F-florbetapir) in a cognitively normal AβPP duplication carrier.
abstract: We report the case of a 62-year-old asymptomatic carrier of AβPP gene duplication. He was investigated by MRI and the amyloid ligand (18)F-AV45, and compared to Alzheimer's disease patients (n = 11) and healthy controls (n = 11). The neuropsychological examination was normal. Cortical thickness and AV45 retention were comparable to Alzheimer's disease patients. AβPP duplication was diagnosed because cerebral amyloid angiopathy and Alzheimer's disease pathology were found on the neuropathological examination of his youngest brother, who died at 42 from intracerebral hemorrhage. This is the first description of a pre-symptomatic AβPP duplication carrier over 60, despite widespread cerebral amyloid angiopathy, "Alzheimer's like" atrophy, and amyloid deposition.
authors.affiliation: Inserm, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, Toulouse, France.
authors.forename: Laure
authors.initials: L
authors.lastname: Saint-Aubert
authors.forename: Mélanie
authors.initials: M
authors.lastname: Planton
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Albucher
authors.forename: Marie-Bernadette
authors.initials: MB
authors.lastname: Delisle
authors.forename: Pierre
authors.initials: P
authors.lastname: Payoux
authors.forename: Anne
authors.initials: A
authors.lastname: Hitzel
authors.forename: Gérard
authors.initials: G
authors.lastname: Viallard
authors.forename: Patrice
authors.initials: P
authors.lastname: Péran
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
authors.forename: Annie
authors.initials: A
authors.lastname: Laquerrière
authors.forename: Emmanuel J
authors.initials: EJ
authors.lastname: Barbeau
authors.forename: Michéle
authors.initials: M
authors.lastname: Puel
authors.forename: Nicolas
authors.initials: N
authors.lastname: Raposo
authors.forename: François
authors.initials: F
authors.lastname: Chollet
authors.forename: Jérémie
authors.initials: J
authors.lastname: Pariente
mesh_terms: D000682:Amyloid / Q000032:analysis; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D000814:Aniline Compounds; D003071:Cognition; D005026:Ethylene Glycols; D005462:Fluorine Radioisotopes; D020440:Gene Duplication; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D000682:Amyloid; D016564:Amyloid beta-Protein Precursor; D000814:Aniline Compounds; D005026:Ethylene Glycols; D005462:Fluorine Radioisotopes; C545186:florbetapir