Article
Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Apr 2024
Joseph-Mathurin Nelly, Feldman Rebecca L, Lu Ruijin, Shirzadi Zahra, Toomer Carmen, Saint Clair Junie R, Ma Yinjiao, McKay Nicole S, Strain Jeremy F, Kilgore Collin, Friedrichsen Karl A, Chen Charles D, Gordon Brian A, Chen Gengsheng, Hornbeck Russ C, Massoumzadeh Parinaz, McCullough Austin A, Wang Qing, Li Yan, Wang Guoqiao, Keefe Sarah J, Schultz Stephanie A, Cruchaga Carlos, Preboske Gregory M, Jack Clifford R, Llibre-Guerra Jorge J, Allegri Ricardo F, Ances Beau M, Berman Sarah B, Brooks William S, Cash David M, Day Gregory S, Fox Nick C, Fulham Michael, Ghetti Bernardino, Johnson Keith A, Jucker Mathias, Klunk William E, la Fougère Christian, Levin Johannes, Niimi Yoshiki, Oh Hwamee, Perrin Richard J, Reischl Gerald, Ringman John M, Saykin Andrew J, Schofield Peter R, Su Yi, Supnet-Bell Charlene, Vöglein Jonathan, Yakushev Igor, Brickman Adam M, Morris John C, McDade Eric, Xiong Chengjie, Bateman Randall J, Chhatwal Jasmeer P, Benzinger Tammie L S
Abstract excerpt
INTRODUCTION: Amyloidosis, including cerebral amyloid angiopathy, and markers of small vessel disease (SVD) vary across dominantly inherited Alzheimer's disease (DIAD) presenilin-1 (PSEN1) mutation carriers. We investigated how mutation position relative to codon 200 (pre-/postcodon 200) influences these pathologic features and dementia at different stages. METHODS: Individuals from families with known PSEN1...
Read the complete abstract on PubMed