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

Liu, Yingzi and Xiao, Xuewen and Liu, Hui and Liao, Xinxin and Zhou, Yafang and Weng, Ling and Zhou, Lu and Liu, Xixi and Bi, Xiang-yun and Xu, Tianyan and Zhu, Yuan and Yang, Qijie and Zhang, Sizhe and Hao, Xiaoli and Zhang, Weiwei and Wang, Junling and Jiao, Bin and Shen, Lu (2022) Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations. Frontiers in Aging Neuroscience, 14. ISSN 1663-4365

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Abstract

Alzheimer’s disease (AD) is a progressive neurodegenerative disease associated with aging, environmental, and genetic factors. Amyloid protein precursor (APP) is a known pathogenic gene for familial Alzheimer’s disease (FAD), and now 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 American college of medical genetics and genomics (ACMG) guidelines. Then, we reanalyzed the clinical characteristics 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 the fact that they show more non-demented symptoms and neurological symptoms. We also performed genotype-phenotype analysis according to the difference in APP processing caused by the mutations, and we found that there were indeed differences in onset age, behavioral and psychological disorders of dementia (BPSD) and myoclonus.

Item Type: Article
Subjects: STM Digital > Medical Science
Depositing User: Unnamed user with email support@stmdigital.org
Date Deposited: 17 May 2024 11:06
Last Modified: 17 May 2024 11:06
URI: http://research.asianarticleeprint.com/id/eprint/1408

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