Open AccessNovel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy
Author(s) -
Xuying Li,
Yue Cui,
Donglai Jing,
Kexin Xie,
Xiao-Ling Zhong,
Yu Kong,
Yuting Wang,
Min Kyung Chu,
Chaodong Wang,
Liyong Wu
Publication year - 2021
Publication title -
alzheimer disease and associated disorders
Language(s) - English
Resource type - Journals
eISSN - 1546-4156
pISSN - 0893-0341
DOI - 10.1097/wad.0000000000000438
Subject(s) - psen1 , atrophy , early onset alzheimer's disease , alzheimer's disease , posterior cortical atrophy , medicine , presenilin , disease , neuroscience , pathology , biology , dementia
Sporadic early-onset Alzheimer disease (sEOAD) and its visual variant, posterior cortical atrophy (PCA), have a disease onset at less than 65 years of age with no familial aggregation. The etiology and genetic basis of these diseases remain poorly understood. Our study aimed to identify additional mutations or variants associated with sEOAD and PCA and to further examine their genetic and phenotypic spectrums.