Article
Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer's disease.
Alzheimer's research & therapy - 4 Jan 2025
Valdes Phoebe, Caldwell Andrew B, Liu Qing, Fitzgerald Michael Q, Ramachandran Srinivasan, Karch Celeste M, Galasko Douglas R, Yuan Shauna H, Wagner Steven L, Subramaniam Shankar
Abstract excerpt
BACKGROUND: PSEN1, PSEN2, and APP mutations cause Alzheimer's disease (AD) with an early age at onset (AAO) and progressive cognitive decline. PSEN1 mutations are more common and generally have an earlier AAO; however, certain PSEN1 mutations cause a later AAO, similar to those observed in PSEN2 and APP. METHODS: We examined whether common disease endotypes exist across these mutations with a later AAO...
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