Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.

Jesse Nicholas CochranJuliana Acosta-UribeBianca T EspositoLucia MadrigalDavid AguillónMargarita M GiraldoJared W TaylorJoseph BradleyBrian Fulton-HowardShea J AndrewsNatalia Acosta-BaenaDiana AlzateGloria P GarciaFrancisco PiedrahitaHugo E LopezAshlyn G AndersonIvan Rodriguez-NunezKevin Robertsnull Dominantly Inherited Alzheimer NetworkDevin AbsherRichard M MyersGary W BeechamChristiane ReitzLindsay F RizzardiMaria Victoria FernandezAlison M GoateCarlos CruchagaAlan E RentonFrancisco LoperaKenneth S Kosik

Published in: Alzheimer's & dementia : the journal of the Alzheimer's Association (2023)

Variants with suggestive associations with AAO were associated with biological processes including clusterin, heparin sulfate, and amyloid processing. The detection of these effects in the presence of a strong mutation for ADAD reinforces their potentially impactful role.

Keyphrases

copy number
mild cognitive impairment
early onset
venous thromboembolism
cognitive impairment
loop mediated isothermal amplification
label free
real time pcr
gene expression