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 journalArticle

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

Fingerprint

Dementia
Alzheimer Disease
Genes
Apolipoproteins E
Interleukin-10
Interleukin-6
Alleles
Apolipoprotein E4
Pedigree
Age of Onset
Genotype
Alzheimer disease type 2
Cytokines
Mutation

Keywords

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

ASJC Scopus subject areas

  • Ageing
  • Geriatrics and Gerontology

Cite this

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

In: Aging clinical and experimental research, Vol. 28, No. 5, 01.10.2016, p. 991-995.

Research output: Contribution to journalArticle

Abbate, Carlo ; Arosio, Beatrice ; Cantatore, Alessandra ; Viti, Niccolò ; Giunco, Fabrizio ; Bagarolo, Renzo Augusto ; Nicolini, Paola ; Gussago, Cristina ; Ferri, Evelyn ; Casati, Martina ; Rossi, Paolo Dionigi ; Casè, Alessandra ; Bergamaschini, Luigi ; Vergani, Carlo ; Mari, Daniela. / 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. In: Aging clinical and experimental research. 2016 ; Vol. 28, No. 5. pp. 991-995.
@article{97b4200c0e0d446baf421b8a5c343913,
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.",
keywords = "Apolipoprotein E, Cytokines, Familial Alzheimer’s disease, Genetic susceptibility, Inflammation, Late-onset Alzheimer’s disease",
author = "Carlo Abbate and Beatrice Arosio and Alessandra Cantatore and Niccol{\`o} Viti and Fabrizio Giunco and Bagarolo, {Renzo Augusto} and Paola Nicolini and Cristina Gussago and Evelyn Ferri and Martina Casati and Rossi, {Paolo Dionigi} and Alessandra Cas{\`e} and Luigi Bergamaschini and Carlo Vergani and Daniela Mari",
year = "2016",
month = "10",
day = "1",
doi = "10.1007/s40520-015-0383-7",
language = "English",
volume = "28",
pages = "991--995",
journal = "Aging clinical and experimental research",
issn = "1594-0667",
publisher = "Springer International Publishing AG",
number = "5",

}

TY - JOUR

T1 - Familial late-onset Alzheimer’s disease

T2 - description of an Italian family with four affected siblings and one case of early-onset dementia in the preceding generation

AU - Abbate, Carlo

AU - Arosio, Beatrice

AU - Cantatore, Alessandra

AU - Viti, Niccolò

AU - Giunco, Fabrizio

AU - Bagarolo, Renzo Augusto

AU - Nicolini, Paola

AU - Gussago, Cristina

AU - Ferri, Evelyn

AU - Casati, Martina

AU - Rossi, Paolo Dionigi

AU - Casè, Alessandra

AU - Bergamaschini, Luigi

AU - Vergani, Carlo

AU - Mari, Daniela

PY - 2016/10/1

Y1 - 2016/10/1

N2 - 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.

AB - 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.

KW - Apolipoprotein E

KW - Cytokines

KW - Familial Alzheimer’s disease

KW - Genetic susceptibility

KW - Inflammation

KW - Late-onset Alzheimer’s disease

UR - http://www.scopus.com/inward/record.url?scp=84986296979&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84986296979&partnerID=8YFLogxK

U2 - 10.1007/s40520-015-0383-7

DO - 10.1007/s40520-015-0383-7

M3 - Article

VL - 28

SP - 991

EP - 995

JO - Aging clinical and experimental research

JF - Aging clinical and experimental research

SN - 1594-0667

IS - 5

ER -