Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.
Nelly Joseph-MathurinRebecca L FeldmanRuijin LuZahra ShirzadiCarmen ToomerJunie R Saint ClairYinjiao MaNicole S McKayJeremy F StrainCollin KilgoreKarl A FriedrichsenCharles D ChenBrian A GordonGengsheng ChenRuss C HornbeckParinaz MassoumzadehAustin A McCulloughQing WangYan LiGuoqiao WangSarah J KeefeStephanie A SchultzCarlos CruchagaGregory M PreboskeClifford R JackJorge J Llibre-GuerraRicardo F AllegriBeau M AncesSarah B BermanWilliam S BrooksDavid M CashGregory S DayNick C FoxMichael FulhamBernardino GhettiKeith A JohnsonMathias JuckerWilliam E KlunkChristian la FougèreJohannes LevinYoshiki NiimiHwamee OhRichard J PerrinGerald ReischlJohn M RingmanAndrew J SaykinPeter R SchofieldYi SuCharlene Supnet-BellJonathan VögleinIgor YakushevAdam M BrickmanJohn C MorrisEric McDadeChengjie XiongRandall J BatemanJasmeer P ChhatwalTammie L S Benzingernull nullPublished in: Alzheimer's & dementia : the journal of the Alzheimer's Association (2024)
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.