Department of Neurology and Institute of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.
Positron Emission Tomography (PET) Center, Huashan Hospital, Fudan University, Shanghai, China.
J Alzheimers Dis. 2022;85(1):65-71. doi: 10.3233/JAD-215167.
Mutations in Presenilin-1 (PSEN1) have been found to be associated with very early onset Alzheimer's disease (VEOAD). Here, we reported two patients with VEOAD caused by de novo PSEN1 mutations. A 33-year-old man with a de novo p.F177S mutation in PSEN1 presented with progressive decline in memory and daily function. A 37-year-old woman with a de novo PSEN1 p.L381V mutation presented with onset memory impairment, developed cerebellar syndrome, rigidity, and spastic paraparesis. The Amyloid/Tau/Neurodegeneration (ATN) biomarker profiles of both patients were A + T + (N)+. Our finding increases the genetic knowledge of VEOAD and extends the ethnic distribution of PSEN1 mutations.
早发性阿尔茨海默病（VEOAD）与早老素 1（PSEN1）中的突变有关。在此，我们报告了两例由 PSEN1 新生突变引起的 VEOAD 患者。一名 33 岁男性，PSEN1 中的新生 p.F177S 突变，表现为记忆和日常功能逐渐下降。一名 37 岁女性，PSEN1 中的新生 p.L381V 突变，表现为记忆障碍，发展为小脑综合征、僵硬和痉挛性截瘫。两名患者的淀粉样蛋白/tau/神经退行性变（ATN）生物标志物谱均为 A+T+N+。我们的发现增加了对 VEOAD 的遗传认识，并扩展了 PSEN1 突变的种族分布。
