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<p>Familial Alzheimer’s disease (FAD), often linked to presenilin&#xa0;1 (<i>PSEN1</i>) 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.</p>

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Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer’s Disease

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月30日

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  • Yong Xia,
  • Xiaoyan Liu,
  • Wenjing Cui,
  • Qianna Zhi,
  • Yuyong Sun

摘要

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.