Xia Yong, Liu Xiaoyan, Cui Wenjing, Zhi Qianna, Sun Yuyong
Affiliated Mental Health Center & Hangzhou Seventh People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Neurol Ther. 2025 Aug;14(4):1729-1741. doi: 10.1007/s40120-025-00787-x. Epub 2025 Jun 30.
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.
家族性阿尔茨海默病（FAD）通常与早老素1（PSEN1）突变有关，其特征为常染色体显性遗传，与散发性阿尔茨海默病相比发病更早。我们报告了一名48岁女性患者，被诊断为携带PSEN1（p.Met139Leu）突变的早发性FAD，该患者最初表现为认知功能下降，随后出现急性精神病症状。尽管采用了抗精神病药物和抗痴呆药物联合治疗，但其认知功能仍迅速恶化，导致严重的功能丧失。该病例突出了FAD非典型的早期精神症状表现，强调了基因检测以及对出现认知和精神症状的年轻患者进行及时干预的重要性。
