title: A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.
abstract: Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)--an Alzheimer disease risk factor--although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population.
authors.affiliation: Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
authors.forename: Frances K
authors.initials: FK
authors.lastname: Wiseman
authors.affiliation: Division of Psychiatry, University College London, Maple House, 149 Tottenham Court Road, London W1T 7NF, UK.
authors.forename: Tamara
authors.initials: T
authors.lastname: Al-Janabi
authors.affiliation: Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.affiliation: Centre for Brain and Cognitive Development, Birkbeck, University of London, Malet Street, London WC1E 7HX, UK.
authors.forename: Annette
authors.initials: A
authors.lastname: Karmiloff-Smith
authors.affiliation: Lee Kong Chian School of Medicine, Nanyang Technological University, Novena Campus, 11 Mandalay Road, Singapore 308232; and the Blizard Institute, Barts and the London School of Medicine, Queen Mary University of London, 4 Newark Street, London E1 2AT, UK.
authors.forename: Dean
authors.initials: D
authors.lastname: Nizetic
authors.affiliation: Francis Crick Institute, Mill Hill Laboratory, London NW7 1AA, UK.
authors.forename: Victor L J
authors.initials: VL
authors.lastname: Tybulewicz
authors.affiliation: Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
authors.forename: Elizabeth M C
authors.initials: EM
authors.lastname: Fisher
authors.affiliation: Division of Psychiatry, University College London, Maple House, 149 Tottenham Court Road, London W1T 7NF, UK.
authors.forename: André
authors.initials: A
authors.lastname: Strydom
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans
chemical_list: D016229:Amyloid beta-Peptides