title: MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype.
abstract: We report the case of a 37-year-old man suffering from insidious visual agnosia and spastic paraparesis due to a PSEN1 mutation. His mother was diagnosed with Alzheimer disease after a biopsy. He was assessed by multimodal neuroimaging, including new in vivo positron emission tomography amyloid imaging (F-AV45). His data were compared with those from healthy participants and patients with sporadic predemential Alzheimer disease. He exhibited posterior cortical thickness reduction, posterior hypometabolism, and increased amyloid ligand uptake in the posterior cortex and the striatum. We show that F-AV45 positron emission tomography allows visualization of the unusual pattern of amyloid deposits that co-localize with cortical atrophy in this genetic form of Alzheimer disease.
authors.affiliation: Inserm, Imagerie Cérébrale et Handicaps Neurologiques, Toulouse, France.
authors.forename: Laure
authors.initials: L
authors.lastname: Saint-Aubert
authors.forename: Pierre
authors.initials: P
authors.lastname: Payoux
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: Emmanuel J
authors.initials: EJ
authors.lastname: Barbeau
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
authors.forename: Marie-Bernadette
authors.initials: MB
authors.lastname: Delisle
authors.forename: Mathieu
authors.initials: M
authors.lastname: Tafani
authors.forename: Gérard
authors.initials: G
authors.lastname: Viallard
authors.forename: Patrice
authors.initials: P
authors.lastname: Péran
authors.forename: Michèle
authors.initials: M
authors.lastname: Puel
authors.forename: François
authors.initials: F
authors.lastname: Chollet
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Demonet
authors.forename: Jérémie
authors.initials: J
authors.lastname: Pariente
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D000814:Aniline Compounds; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D005026:Ethylene Glycols; D019788:Fluorodeoxyglucose F18; D006801:Humans; D008297:Male; D010641:Phenotype; D049268:Positron-Emission Tomography / Q000379:methods*; D053764:Presenilin-1 / Q000235:genetics; D019275:Radiopharmaceuticals
chemical_list: D000814:Aniline Compounds; D005026:Ethylene Glycols; C508853:PSEN1 protein, human; D053764:Presenilin-1; D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18; C545186:florbetapir