Insights into spinal muscular atrophy from molecular biomarkers  

作　　者：Xiaodong Xing Xinzhu Liu Xiandeng Li Mi Li Xian Wu Xiaohui Huang Ajing Xu Yan Liu Jian Zhang 

机构地区：[1]Department of Clinical Pharmacy,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai,China [2]College of Pharmacy,Chongqing Medical University,Chongqing,China

出　　处：《Neural Regeneration Research》2025年第7期1849-1863,共15页中国神经再生研究（英文版）

基　　金：supported by the Collaborative Innovation Center for Clinical and Translational Science by Chinese Ministry of Education&Shanghai,No.CCTS-2022205;the“Double World-Class Project”of Shanghai Jiaotong University School of Medicine(both to JZ)。

摘　　要：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.

关 键 词：biomarkers disease progression gene-targeting therapy NEUROFILAMENTS Nusinersen spinal muscular atrophy(SMA) survival motor neuron therapeutic evaluation treatment outcomes 

分 类 号：R744.8[医药卫生—神经病学与精神病学]