Presenilin‐1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage
Nelly Joseph‐Mathurin,
Rebecca L. Feldman,
Ruijin Lu
et al.
Abstract:INTRODUCTIONAmyloidosis, 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.METHODSIndividuals from families with known PSEN1 mutations (n = 393) underwent neuroimaging and clinical assessments. We cross‐sectionally evaluated regional… Show more
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