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

• Published in: Aging clinical and experimental research 2016-10, Vol.28 (5), p.991-995
• Main Authors: Abbate, Carlo, Arosio, Beatrice, Cantatore, Alessandra, Viti, Niccolò, Giunco, Fabrizio, Bagarolo, Renzo, Nicolini, Paola, Gussago, Cristina, Ferri, Evelyn, Casati, Martina, Rossi, Paolo Dionigi, Casè, Alessandra, Bergamaschini, Luigi, Vergani, Carlo, Mari, Daniela
• Format: Article
• Language: English
• Subjects: Aged; Aged, 80 and over; Alleles; Alzheimer Disease - genetics; Dementia; Dementia - genetics; Female; Genes; Genotype; Geriatrics/Gerontology; Health risk assessment; Humans; Italy; Male; Medicine; Medicine & Public Health; Polymorphism, Genetic; Short Communication; Siblings
• ISSN: 1720-8319; 1594-0667; 1720-8319
• DOI: 10.1007/s40520-015-0383-7

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.