AUTHOR=Liu Yingzi , Xiao Xuewen , Liu Hui , Liao Xinxin , Zhou Yafang , Weng Ling , Zhou Lu , Liu Xixi , Bi Xiang-yun , Xu Tianyan , Zhu Yuan , Yang Qijie , Zhang Sizhe , Hao Xiaoli , Zhang Weiwei , Wang Junling , Jiao Bin , Shen Lu 

TITLE=Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations

JOURNAL=Frontiers in Aging Neuroscience

VOLUME=Volume 14 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/aging-neuroscience/articles/10.3389/fnagi.2022.1013295

DOI=10.3389/fnagi.2022.1013295

ISSN=1663-4365

ABSTRACT=Alzheimer's disease (AD) is a progressive neurodegenerative disease associated with aging, environmental and genetic fac-tors. APP is a known pathogenic gene for familial AD (FAD), accounting for about 1% of FAD. Currently, more than 70 APP mutations have been reported, but the genotype-phenotype correlation remains unclear. In this study, we collected clinical data from patients carrying APP mutations defined as pathogenic/likely pathogenic according to the ACMG guide-lines. Then we reanalyzed the clinical charac-teristics and identified genotype-phenotype correlations in APP mutations. Our results indicated that the clinical phenotypes of APP mutations are generally consistent with typical AD despite some specific and heterogeneous features. We also found some differences in V717I mutation compared to other APP muta-tions, and individuals with extrapyramidal symptoms (EPS) or ataxia were more likely to have spastic par-aplegia.