Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication.

Lou GrangeonKévin CassinariStéphane RousseauBernard CroisileMaïté FormaglioOlivier MoreaudJean BoutonnatNathalie Le MeurManuele MinéThibault CosteEva PipirasElisabeth Tournier-LasserveAnne Rovelet-LecruxDominique CampionDavid WallonGaël Nicolas

Published in: Neurology. Genetics (2021)

Increased copy number of APP is sufficient to cause AD and CAA, with likely earlier onset in case of triplication compared with duplication.

Keyphrases

early onset
copy number
mitochondrial dna
late onset
genome wide
mild cognitive impairment
dna methylation
subarachnoid hemorrhage
cerebral ischemia
brain injury
gene expression