Gene mutations in a Han Chinese Alzheimer's disease cohort

ConclusionsThus, five variants were identified in a Han Chinese cohort. In the present study, a novel, probably damaging FTLD geneTBK1variant with a typical AD phenotype was detected. Also, the phenotypic characteristics of PSEN1 p.L226R, aPSEN2pathogenic mutation, and two likely benignMAPT variants were described. Hence, screening for mutations in other dementia genes could be further explored in clinically diagnosed AD patients.

Source: Brain and Behavior - December 14, 2018 Category: Neurology Authors: Limin Ma, Jiewen Zhang, Yingying Shi, Wan Wang, Zhixia Ren, Mingrong Xia, Yuanxing Zhang, Miaomiao Yang Tags: ORIGINAL RESEARCH Source Type: research