title: Posterior Accumulation of Tau and Concordant Hypometabolism in an Early-Onset Alzheimer's Disease Patient with Presenilin-1 Mutation.
abstract: It is unclear whether the distribution of tau pathology differs between cases with early-onset familial Alzheimer's disease (AD) and sporadic AD. We present positron emission tomography (PET) data from a young patient with a presenilin-1 mutation (Thr116Asn). 18F-flutemetamol PET showed a distribution of amyloid-β fibrils similar to sporadic AD. However, the pattern of tau pathology, revealed using 18F-AV1451 PET, showed higher uptake in posterior cingulate, precuneus, parietal and occipital cortices compared to late-onset sporadic AD. Further, the tau pathology, but not amyloid pathology, exhibited a very clear inverse relationship with 18F-fluorodeoxyglucose-metabolism, indicating neuronal hypometabolism in regions affected by tau aggregates.
authors.affiliation: Departments of Neurology, Skåne University Hospital, Lund-Malmö, Sweden.
authors.forename: Ruben
authors.initials: R
authors.lastname: Smith
authors.affiliation: Memory Clinic, Ängelholm Hospital, Ängelholm, Sweden.
authors.forename: Moa
authors.initials: M
authors.lastname: Wibom
authors.affiliation: Radiation Physics, Skåne University Hospital, Lund-Malmö, Sweden.
authors.forename: Tomas
authors.initials: T
authors.lastname: Olsson
authors.affiliation: Clinical Neurophysiology, Skåne University Hospital, Lund-Malmö, Sweden.
authors.forename: Douglas
authors.initials: D
authors.lastname: Hägerström
authors.affiliation: Clinical Physiology and Nuclear Medicine, Skåne University Hospital, Lund-Malmö, Sweden.
authors.forename: Jonas
authors.initials: J
authors.lastname: Jögi
authors.affiliation: Memory and Aging Center, Department of Neurology, University of California, San Francisco, CA, USA.
authors.forename: Gil D
authors.initials: GD
authors.lastname: Rabinovici
authors.affiliation: Memory clinic, Skåne University Hospital, Lund-Malmö, Sweden.
authors.forename: Oskar
authors.initials: O
authors.lastname: Hansson
mesh_terms: D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism*; D016229:Amyloid beta-Peptides / Q000378:metabolism; D000814:Aniline Compounds; D052160:Benzothiazoles; D001921:Brain / Q000000981:diagnostic imaging* / Q000378:metabolism*; D001931:Brain Mapping; D019788:Fluorodeoxyglucose F18; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D049268:Positron-Emission Tomography; D053764:Presenilin-1 / Q000235:genetics*; D019275:Radiopharmaceuticals; D016875:tau Proteins / Q000378:metabolism*
chemical_list: D016229:Amyloid beta-Peptides; D000814:Aniline Compounds; D052160:Benzothiazoles; C054369:MAPT protein, human; C508853:PSEN1 protein, human; D053764:Presenilin-1; D019275:Radiopharmaceuticals; D016875:tau Proteins; C581552:flutemetamol; D019788:Fluorodeoxyglucose F18
keywords: Alzheimer’s disease; positron-emission tomography; presenilins; tau proteins