title: Familial late-onset Alzheimer's disease: description of an Italian family with four affected siblings and one case of early-onset dementia in the preceding generation.
abstract: We describe a family composed of six siblings, four of which affected by late-onset Alzheimer's disease (LOAD). We constructed the family pedigree, evaluated mutations usually associated with early-onset Alzheimer's disease (APP, PSEN1, PSEN2), and assessed polymorphisms in the apolipoprotein E (APOE) gene and in cytokine genes that we had previously found to be associated with a higher risk of LOAD (IL-10, IL-6, TNF-α). Results showed that all subjects carried one ε4 allele of the APOE gene and those with the earliest age of onset exhibited the AA (-1082) IL-10 and the CC (-174) IL-6 genotypes. The only male had a genetic profile which also included the A (-308) TNF-α allele. These data confirm the role of the APOE gene as genetic risk factor in LOAD, and suggest that the risk of developing AD may be governed by a "susceptibility profile" involving polymorphisms in inflammatory genes.
authors.affiliation: Geriatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy. carlo.abbate@guest.unimi.it.
authors.forename: Carlo
authors.initials: C
authors.lastname: Abbate
authors.affiliation: Geriatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.|Department of Medical Sciences and Community Health, University of Milan, Milan, Italy.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Arosio
authors.affiliation: S. Maria Nascente, Fondazione IRCCS Don Carlo Gnocchi, ONLUS, Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Cantatore
authors.affiliation: S. Maria Nascente, Fondazione IRCCS Don Carlo Gnocchi, ONLUS, Milan, Italy.
authors.forename: Niccolò
authors.initials: N
authors.lastname: Viti
authors.affiliation: S. Maria Nascente, Fondazione IRCCS Don Carlo Gnocchi, ONLUS, Milan, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Giunco
authors.affiliation: S. Maria Nascente, Fondazione IRCCS Don Carlo Gnocchi, ONLUS, Milan, Italy.
authors.forename: Renzo
authors.initials: R
authors.lastname: Bagarolo
authors.affiliation: Cardiovascular Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Nicolini
authors.affiliation: Geriatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.|Department of Medical Sciences and Community Health, University of Milan, Milan, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Gussago
authors.affiliation: Geriatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.|Department of Medical Sciences and Community Health, University of Milan, Milan, Italy.
authors.forename: Evelyn
authors.initials: E
authors.lastname: Ferri
authors.affiliation: Geriatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.|Department of Medical Sciences and Community Health, University of Milan, Milan, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Casati
authors.affiliation: Geriatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.
authors.forename: Paolo Dionigi
authors.initials: PD
authors.lastname: Rossi
authors.affiliation: Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Casè
authors.affiliation: Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Bergamaschini
authors.affiliation: University of Milan, Milan, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Vergani
authors.affiliation: Geriatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122, Milan, Italy.|Department of Medical Sciences and Community Health, University of Milan, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Mari
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D003704:Dementia / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D011110:Polymorphism, Genetic; D035781:Siblings
keywords: Apolipoprotein E; Cytokines; Familial Alzheimer’s disease; Genetic susceptibility; Inflammation; Late-onset Alzheimer’s disease