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

Carlo Abbate, Beatrice Arosio, Alessandra Cantatore, Niccolò Viti, Fabrizio Giunco, Renzo Augusto Bagarolo, Paola Nicolini, Cristina Gussago, Evelyn Ferri, Martina Casati, Paolo Dionigi Rossi, Alessandra Casè, Luigi Bergamaschini, Carlo Vergani, Daniela Mari

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)991-995
Number of pages5
JournalAging clinical and experimental research
Volume28
Issue number5
DOIs
Publication statusPublished - Oct 1 2016

Keywords

  • Apolipoprotein E
  • Cytokines
  • Familial Alzheimer’s disease
  • Genetic susceptibility
  • Inflammation
  • Late-onset Alzheimer’s disease

ASJC Scopus subject areas

  • Ageing
  • Geriatrics and Gerontology

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