Insights into spinal muscular atrophy from molecular biomarkers
Xiaodong Xing
Xinzhu Liu
Xiandeng Li
Mi Li
Xian Wu
Xiaohui Huang
Ajing Xu
Yan Liu
Jian Zhang
Abstract：Spinal muscular atrophy is a devastating motor neuron disease characterized by severe cases of fatal muscle weakness. It is one of the most common genetic causes of mortality among infants aged less than 2 years. Biomarker research is currently receiving more attention, and new candidate biomarkers are constantly being discovered. This review initially discusses the evaluation methods commonly used in clinical practice while briefly outlining their respective pros and cons. We also describe recent advancements in research and the clinical significance of molecular biomarkers for spinal muscular atrophy, which are classified as either specific or non-specific biomarkers. This review provides new insights into the pathogenesis of spinal muscular atrophy, the mechanism of biomarkers in response to drug-modified therapies, the selection of biomarker candidates, and would promote the development of future research. Furthermore, the successful utilization of biomarkers may facilitate the implementation of gene-targeting treatments for patients with spinal muscular atrophy.
Keywords：biomarkersdisease progressiongene-targeting therapyneurofilamentsNusinersenspinal muscular atrophy(SMA)survival motor neurontherapeutic evaluationtreatment outcomes
Publication Date：2025-07-27
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：15( 1849-1863 )