Article
Down syndrome and a presenilin 2 variant: dual genetic risk of Alzheimer's disease.
Acta neuropathologica - 4 Sept 2025
Ogg Jordan, Postupna Nadia, Gibbons Laura E, Ariza Jeanelle, Xiao Ming, Fonseca Luciana M, Jayadev Suman, Keene C Dirk, Bird Thomas D, Latimer Caitlin S
Abstract excerpt
Early onset familial Alzheimer's disease (EOFAD) is rare compared to sporadic AD, but dominant variants in genes involved in amyloid β (Aβ) processing are well-described. One such variant is in the presenilin 2 (PSEN2) gene, N141I, and was first described in a family with Volga German descent. Separately, individuals with Down syndrome (DS) are also at risk for early onset AD, having an extra copy of an amyloid...
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