Frontiers in Aging Neuroscience (Oct 2022)
Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations
- Yingzi Liu,
- Xuewen Xiao,
- Hui Liu,
- Xinxin Liao,
- Xinxin Liao,
- Xinxin Liao,
- Xinxin Liao,
- Xinxin Liao,
- Yafang Zhou,
- Yafang Zhou,
- Yafang Zhou,
- Yafang Zhou,
- Yafang Zhou,
- Ling Weng,
- Ling Weng,
- Ling Weng,
- Ling Weng,
- Ling Weng,
- Lu Zhou,
- Xixi Liu,
- Xiang-yun Bi,
- Tianyan Xu,
- Yuan Zhu,
- Qijie Yang,
- Sizhe Zhang,
- Xiaoli Hao,
- Weiwei Zhang,
- Weiwei Zhang,
- Weiwei Zhang,
- Weiwei Zhang,
- Weiwei Zhang,
- Junling Wang,
- Junling Wang,
- Junling Wang,
- Junling Wang,
- Junling Wang,
- Bin Jiao,
- Bin Jiao,
- Bin Jiao,
- Bin Jiao,
- Bin Jiao,
- Lu Shen,
- Lu Shen,
- Lu Shen,
- Lu Shen,
- Lu Shen,
- Lu Shen
Affiliations
- Yingzi Liu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Xuewen Xiao
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Hui Liu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Xinxin Liao
- National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China
- Xinxin Liao
- Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China
- Xinxin Liao
- Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China
- Xinxin Liao
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- Xinxin Liao
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Yafang Zhou
- National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China
- Yafang Zhou
- Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China
- Yafang Zhou
- Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China
- Yafang Zhou
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- Yafang Zhou
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Ling Weng
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Ling Weng
- National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China
- Ling Weng
- Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China
- Ling Weng
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- Ling Weng
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Lu Zhou
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Xixi Liu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Xiang-yun Bi
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Tianyan Xu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Yuan Zhu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Qijie Yang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Sizhe Zhang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Xiaoli Hao
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Weiwei Zhang
- National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China
- Weiwei Zhang
- Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China
- Weiwei Zhang
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- Weiwei Zhang
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Weiwei Zhang
- Department of Radiology, Xiangya Hospital, Central South University, Changsha, China
- Junling Wang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Junling Wang
- National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China
- Junling Wang
- Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China
- Junling Wang
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- Junling Wang
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Bin Jiao
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Bin Jiao
- National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China
- Bin Jiao
- Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China
- Bin Jiao
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- Bin Jiao
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Lu Shen
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Lu Shen
- National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China
- Lu Shen
- Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China
- Lu Shen
- Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China
- Lu Shen
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Lu Shen
- Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, China
- DOI
- https://doi.org/10.3389/fnagi.2022.1013295
- Journal volume & issue
-
Vol. 14
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.
Keywords
- Alzheimer’s disease
- APP mutations
- clinical characteristics
- genotype-phenotypic
- non-dementia symptoms
- neurological symptoms
