Guo Mengyao, Qin Linyuan, Cai Hanlin, Wang Ruihan, Luo Caimei, Yang Feng, Feng Shiyu, Gao Hui, Chen Qin
Department of Neurology, West China Hospital of Sichuan University, Chengdu, China.
Front Neurol. 2025 Aug 18;16:1663609. doi: 10.3389/fneur.2025.1663609. eCollection 2025.
Familial frontotemporal dementia (FTD) is a genetically heterogeneous disease with various clinical manifestations, making it difficult to diagnose. There are three main gene mutations in familial FTD: repeat expansion in chromosome 9 open reading frame 72 (), microtubule-associated protein tau (), and progranulin (). These mutations can produce corresponding changes in fluid biomarkers years before symptoms appear. Therefore, biomarkers play a vital role in the diagnosis and treatment of familial FTD. In this review, we highlight fluid biomarkers in the blood and cerebrospinal fluid (CSF) that contribute to the clinical diagnosis of familial FTD, the study of disease pathophysiological mechanisms, and possibly be used as outcome endpoints in future clinical trials.
家族性额颞叶痴呆（FTD）是一种具有多种临床表现的基因异质性疾病，难以诊断。家族性FTD主要有三种基因突变：9号染色体开放阅读框72（）中的重复扩增、微管相关蛋白tau（）和原颗粒蛋白（）。这些突变可在症状出现前数年使体液生物标志物产生相应变化。因此，生物标志物在家族性FTD的诊断和治疗中起着至关重要的作用。在本综述中，我们重点介绍血液和脑脊液（CSF）中的体液生物标志物，这些生物标志物有助于家族性FTD的临床诊断、疾病病理生理机制的研究，并可能在未来临床试验中用作结局终点。
