Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer’s Disease
Abstract Familial Alzheimer’s disease (FAD), often linked to presenilin 1 (PSEN1) mutations, is characterized by an autosomal dominant inheritance and earlier onset compared to sporadic Alzheimer’s disease. We report a 48-year-old female patient diagnosed with early-onset FAD carrying a PSEN1 (p.Met...
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| Format: | Article |
| Language: | English |
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Adis, Springer Healthcare
2025-06-01
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| Series: | Neurology and Therapy |
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| Online Access: | https://doi.org/10.1007/s40120-025-00787-x |
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| author | Yong Xia Xiaoyan Liu Wenjing Cui Qianna Zhi Yuyong Sun |
| author_facet | Yong Xia Xiaoyan Liu Wenjing Cui Qianna Zhi Yuyong Sun |
| author_sort | Yong Xia |
| collection | DOAJ |
| description | Abstract Familial Alzheimer’s disease (FAD), often linked to presenilin 1 (PSEN1) mutations, is characterized by an autosomal dominant inheritance and earlier onset compared to sporadic Alzheimer’s disease. We report a 48-year-old female patient diagnosed with early-onset FAD carrying a PSEN1 (p.Met139Leu) mutation, who initially presented with cognitive decline and later developed acute psychotic symptoms. Despite combined antipsychotic and anti-dementia treatment, her cognitive function rapidly deteriorated, resulting in significant functional loss. This case highlights the atypical early psychiatric manifestations of FAD, emphasizing the importance of genetic testing and prompt intervention in younger patients presenting with cognitive and psychiatric symptoms. |
| format | Article |
| id | doaj-art-89bd4021edc849e8a061d397a2347dbe |
| institution | Kabale University |
| issn | 2193-8253 2193-6536 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Adis, Springer Healthcare |
| record_format | Article |
| series | Neurology and Therapy |
| spelling | doaj-art-89bd4021edc849e8a061d397a2347dbe2025-08-20T03:42:11ZengAdis, Springer HealthcareNeurology and Therapy2193-82532193-65362025-06-011441729174110.1007/s40120-025-00787-xCase Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer’s DiseaseYong Xia0Xiaoyan Liu1Wenjing Cui2Qianna Zhi3Yuyong Sun4Affiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of MedicineAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of MedicineAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of MedicineAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of MedicineAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of MedicineAbstract Familial Alzheimer’s disease (FAD), often linked to presenilin 1 (PSEN1) mutations, is characterized by an autosomal dominant inheritance and earlier onset compared to sporadic Alzheimer’s disease. We report a 48-year-old female patient diagnosed with early-onset FAD carrying a PSEN1 (p.Met139Leu) mutation, who initially presented with cognitive decline and later developed acute psychotic symptoms. Despite combined antipsychotic and anti-dementia treatment, her cognitive function rapidly deteriorated, resulting in significant functional loss. This case highlights the atypical early psychiatric manifestations of FAD, emphasizing the importance of genetic testing and prompt intervention in younger patients presenting with cognitive and psychiatric symptoms.https://doi.org/10.1007/s40120-025-00787-xFamilial Alzheimer’s diseasePSEN1GeneMutation |
| spellingShingle | Yong Xia Xiaoyan Liu Wenjing Cui Qianna Zhi Yuyong Sun Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer’s Disease Neurology and Therapy Familial Alzheimer’s disease PSEN1 Gene Mutation |
| title | Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer’s Disease |
| title_full | Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer’s Disease |
| title_fullStr | Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer’s Disease |
| title_full_unstemmed | Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer’s Disease |
| title_short | Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer’s Disease |
| title_sort | case report acute psychiatric behavioral disturbance in a patient with presenilin 1 gene mutation associated with familial alzheimer s disease |
| topic | Familial Alzheimer’s disease PSEN1 Gene Mutation |
| url | https://doi.org/10.1007/s40120-025-00787-x |
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