REVIEW article
Front. Neurol.
Sec. Dementia and Neurodegenerative Diseases
Volume 16 - 2025 | doi: 10.3389/fneur.2025.1663609
This article is part of the Research TopicBlood, Cerebrospinal Fluid, and Vascular Biomarkers for DementiaView all 23 articles
Fluid biomarkers in familial frontotemporal dementia: Progress and prospects
Provisionally accepted
- Sichuan University West China Hospital Department of Neurology, Chengdu, China
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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 (C9orf72), microtubule-associated protein tau (MAPT), and progranulin (GRN). 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.
Keywords: Fluid biomarker, Familial frontotemporal dementia, MAPT, GRN, C9orf72
Received: 10 Jul 2025; Accepted: 04 Aug 2025.
Copyright: © 2025 Guo, Qin, Cai, Wang, Luo, Yang, Feng, Gao and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Mengyao Guo, Sichuan University West China Hospital Department of Neurology, Chengdu, China
Hui Gao, Sichuan University West China Hospital Department of Neurology, Chengdu, China
Qin Chen, Sichuan University West China Hospital Department of Neurology, Chengdu, China
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