Article
Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.
Neurobiology of aging - 1 Oct 2014
Niu Fusheng, Yu Shanshan, Zhang Zhenxin, Yi Xin, Ye Lili, Tang Wei, Qiu Changchun, Wen Hongbo, Sun Yujing, Gao Jing, Guo Yupu
Abstract excerpt
The mutations in the presenilin 2 (PSEN2) gene as causes of early-onset familial Alzheimer's disease (AD) have never been reported in Asia. We conducted a phenotype and pedigree study by performing neuropathological examination and target region sequencing in a family of 3 generations. Six members in this family developed dementia in their fifth decade and died in their sixth decade. The proband was diagnosed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.