Late-onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation.

Marta ScarioniA ArighiC FenoglioF SorrentinoM SerpenteE RotondoM MercurioG MarottaA A DijkstraY A L PijnenburgE ScarpiniD Galimberti

Published in: European journal of neurology (2020)

Extensive genetic screening is also advisable for late-onset presentations of Alzheimer's disease, especially in the presence of a positive family history or atypical clinical features.

Keyphrases

late onset
early onset
single cell
genome wide
cognitive decline
case report
copy number
dna methylation