Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations
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-ph...
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Aging Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnagi.2022.1013295/full |
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| author | 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 |
| author_facet | 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 |
| author_sort | Yingzi Liu |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T16:48:08Z |
| format | Article |
| id | doaj.art-355f44e5425540de8be52e1acf98d808 |
| institution | Directory Open Access Journal |
| issn | 1663-4365 |
| language | English |
| last_indexed | 2024-04-11T16:48:08Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Aging Neuroscience |
| spelling | doaj.art-355f44e5425540de8be52e1acf98d8082022-12-22T04:13:31ZengFrontiers Media S.A.Frontiers in Aging Neuroscience1663-43652022-10-011410.3389/fnagi.2022.10132951013295Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutationsYingzi Liu0Xuewen Xiao1Hui Liu2Xinxin Liao3Xinxin Liao4Xinxin Liao5Xinxin Liao6Xinxin Liao7Yafang Zhou8Yafang Zhou9Yafang Zhou10Yafang Zhou11Yafang Zhou12Ling Weng13Ling Weng14Ling Weng15Ling Weng16Ling Weng17Lu Zhou18Xixi Liu19Xiang-yun Bi20Tianyan Xu21Yuan Zhu22Qijie Yang23Sizhe Zhang24Xiaoli Hao25Weiwei Zhang26Weiwei Zhang27Weiwei Zhang28Weiwei Zhang29Weiwei Zhang30Junling Wang31Junling Wang32Junling Wang33Junling Wang34Junling Wang35Bin Jiao36Bin Jiao37Bin Jiao38Bin Jiao39Bin Jiao40Lu Shen41Lu Shen42Lu Shen43Lu Shen44Lu Shen45Lu Shen46Department of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Central South University, Changsha, ChinaDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, ChinaEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, ChinaHunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Central South University, Changsha, ChinaDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, ChinaEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, ChinaHunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Central South University, Changsha, ChinaEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, ChinaHunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Central South University, Changsha, ChinaEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, ChinaHunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaDepartment of Radiology, Xiangya Hospital, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Central South University, Changsha, ChinaEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, ChinaHunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Central South University, Changsha, ChinaEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, ChinaHunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, ChinaNational Clinical Research Center for Geriatric Disorders, Central South University, Changsha, ChinaEngineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, ChinaHunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, ChinaKey Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, ChinaKey Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, ChinaAlzheimer’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.https://www.frontiersin.org/articles/10.3389/fnagi.2022.1013295/fullAlzheimer’s diseaseAPP mutationsclinical characteristicsgenotype-phenotypicnon-dementia symptomsneurological symptoms |
| spellingShingle | 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 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 Alzheimer’s disease APP mutations clinical characteristics genotype-phenotypic non-dementia symptoms neurological symptoms |
| title | Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations |
| title_full | Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations |
| title_fullStr | Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations |
| title_full_unstemmed | Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations |
| title_short | Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations |
| title_sort | clinical characteristics and genotype phenotype correlation analysis of familial alzheimer s disease patients with pathogenic likely pathogenic amyloid protein precursor mutations |
| topic | Alzheimer’s disease APP mutations clinical characteristics genotype-phenotypic non-dementia symptoms neurological symptoms |
| url | https://www.frontiersin.org/articles/10.3389/fnagi.2022.1013295/full |
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