Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance
Alzheimer’s disease (AD) is the most common form of neurodegenerative dementia. In this study, whole genome sequencing identifies one rare and likely pathogenic mutation in the presenilin 1 (PSEN1) gene (c.356C > T, p.T119I) associated with a frontal variant of AD. Affected individuals in the...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-05-01
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| Series: | Frontiers in Psychiatry |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fpsyt.2020.00347/full |
| _version_ | 1830487473537417216 |
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| author | Shouzi Zhang Xiang Li Li Zhang Xiangyan Meng Li Ma Guangze Zhang Haiyan Wu Ling Liang Meng Cao Fan Mei |
| author_facet | Shouzi Zhang Xiang Li Li Zhang Xiangyan Meng Li Ma Guangze Zhang Haiyan Wu Ling Liang Meng Cao Fan Mei |
| author_sort | Shouzi Zhang |
| collection | DOAJ |
| description | Alzheimer’s disease (AD) is the most common form of neurodegenerative dementia. In this study, whole genome sequencing identifies one rare and likely pathogenic mutation in the presenilin 1 (PSEN1) gene (c.356C > T, p.T119I) associated with a frontal variant of AD. Affected individuals in the kindred developed late-onset cognitive decline accompanied with early presentation of psychiatric symptoms. Positive amyloid PiB PET tracing suggested presence of pathophysiological biomarker for AD. Whole genome sequencing analysis evaluated rare coding mutations in susceptible genes for various types of dementia and supported the role of PSEN1 as a causal gene. Identification of this T119I variant in PSEN1 might broaden the spectrum of genetic basis and clinical diversity of familial AD. |
| first_indexed | 2024-12-21T19:02:05Z |
| format | Article |
| id | doaj.art-d71cee9749524e8fb923ec1076d443a7 |
| institution | Directory Open Access Journal |
| issn | 1664-0640 |
| language | English |
| last_indexed | 2024-12-21T19:02:05Z |
| publishDate | 2020-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Psychiatry |
| spelling | doaj.art-d71cee9749524e8fb923ec1076d443a72022-12-21T18:53:27ZengFrontiers Media S.A.Frontiers in Psychiatry1664-06402020-05-011110.3389/fpsyt.2020.00347522068Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral DisturbanceShouzi Zhang0Xiang Li1Li Zhang2Xiangyan Meng3Li Ma4Guangze Zhang5Haiyan Wu6Ling Liang7Meng Cao8Fan Mei9Psychiatry Department, Beijing Geriatric Hospital, Beijing, ChinaInstitute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, ChinaPsychiatry Department, Beijing Geriatric Hospital, Beijing, ChinaInstitute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, ChinaPsychiatry Department, Beijing Geriatric Hospital, Beijing, ChinaInstitute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, ChinaPsychiatry Department, Beijing Geriatric Hospital, Beijing, ChinaInstitute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, ChinaPsychiatry Department, Beijing Geriatric Hospital, Beijing, ChinaInstitute of Systems Biomedicine, Department of Pathology, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, ChinaAlzheimer’s disease (AD) is the most common form of neurodegenerative dementia. In this study, whole genome sequencing identifies one rare and likely pathogenic mutation in the presenilin 1 (PSEN1) gene (c.356C > T, p.T119I) associated with a frontal variant of AD. Affected individuals in the kindred developed late-onset cognitive decline accompanied with early presentation of psychiatric symptoms. Positive amyloid PiB PET tracing suggested presence of pathophysiological biomarker for AD. Whole genome sequencing analysis evaluated rare coding mutations in susceptible genes for various types of dementia and supported the role of PSEN1 as a causal gene. Identification of this T119I variant in PSEN1 might broaden the spectrum of genetic basis and clinical diversity of familial AD.https://www.frontiersin.org/article/10.3389/fpsyt.2020.00347/fullAlzheimer’s diseasebehavioral disturbancePSEN1 mutationwhole genome sequencingrare coding variants |
| spellingShingle | Shouzi Zhang Xiang Li Li Zhang Xiangyan Meng Li Ma Guangze Zhang Haiyan Wu Ling Liang Meng Cao Fan Mei Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance Frontiers in Psychiatry Alzheimer’s disease behavioral disturbance PSEN1 mutation whole genome sequencing rare coding variants |
| title | Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance |
| title_full | Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance |
| title_fullStr | Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance |
| title_full_unstemmed | Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance |
| title_short | Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance |
| title_sort | identification of a rare psen1 mutation thr119ile in late onset alzheimer s disease with early presentation of behavioral disturbance |
| topic | Alzheimer’s disease behavioral disturbance PSEN1 mutation whole genome sequencing rare coding variants |
| url | https://www.frontiersin.org/article/10.3389/fpsyt.2020.00347/full |
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