Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage

DISCUSSION: We demonstrated the genotypic variability behind spatiotemporal amyloidosis, SVD, and clinical presentation in DIAD, which may inform patient prognosis and clinical trials.HIGHLIGHTS: Mutation position influences Aβ burden, SVD, and dementia. PSEN1 pre-200 group had stronger associations between Aβ burden and disease stage. PSEN1 post-200 group had stronger associations between SVD markers and disease stage. PSEN1 post-200 group had worse dementia score than pre-200 in late disease stage. Diffusion tensor imaging-based SVD markers mediated mutation position effects on dementia in the late stage.PMID:38380882 | DOI:10.1002/alz.13729

Source: The Journal of Alzheimers Association - February 21, 2024 Category: Psychiatry Authors: Nelly Joseph-Mathurin Rebecca L Feldman Ruijin Lu Zahra Shirzadi Carmen Toomer Junie R Saint Clair Yinjiao Ma Nicole S McKay Jeremy F Strain Collin Kilgore Karl A Friedrichsen Charles D Chen Brian A Gordon Gengsheng Chen Russ C Hornbeck Parinaz Massoumzad Source Type: research