A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer’s Disease in a Chinese Family

A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer’s Disease in a Chinese Family

Familial Alzheimer’s disease (FAD) present as a positive family history of cognitive decline, with early onset and an autosomal dominant inheritance pattern. FAD is mainly caused by the mutations in the genes encoding for amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2...

Full description

Bibliographic Details
Main Authors: Bin Jiang, Min Bi, Jun Li, Qi Liu, Nai-An Xiao, Jie Fang, Man-Yi Shi, Zi-Wen Yu, Qi-Lin Ma, Sui-Jun Tong, Kun-Mu Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Genetics
Subjects:
Alzheimer’s disease
PSEN1
pathogenic variant
whole-exome sequencing
Chinese family
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00713/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00713/full

Similar Items