REVIEW article
Front. Neurol.
Sec. Neurological Biomarkers
Volume 16 - 2025 | doi: 10.3389/fneur.2025.1636992
Biomarkers in spinal muscular atrophy
Provisionally accepted
- 1Second Affiliated Hospital of Nanchang University, Nanchang, China
- 2Affiliated Hospital of Shangdong University of Traditional Chinese Medicine, Jinan, China
- 3Yangpu Hospital, School of Medicine, Tongji University, Shanghai, China
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Spinal muscular atrophy is a hereditary disorder leading to severe neuromuscular impairment. With the introduction of disease-modifying therapies in recent years, the role of biomarkers has expanded from aiding diagnosis to monitoring treatment responses, prognostic assessment, and the development of individualized treatment strategies. This review systematically summarizes biomarkers in the field of spinal muscular atrophy, including physiological indicators, functional assessments, imaging features, and molecular markers, which are derived from the analysis of different tissues from human patients and animal models. This article provides a concise summary of the classic biomarkers widely used in current clinical practice and introduces the potential new biomarkers revealed by the latest research. It focuses on discussing the expression patterns, clinical correlations, and applicable conditions of various types of biomarkers, with the aim of providing more accurate basis for disease stratification, efficacy prediction, and treatment decision-making.
Keywords: SMA, SMN1, Molecular Biomarkers, Physiological biomarkers, imaging biomarkers
Received: 29 May 2025; Accepted: 04 Jul 2025.
Copyright: © 2025 Yan, Zhang, Zheng and Hao. 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: Hua Hao, Yangpu Hospital, School of Medicine, Tongji University, Shanghai, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.