Biomarkers in spinal muscular atrophy

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 o...

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Main Authors: Liping Yan, Jinping Zhang, Jian Zheng, Hua Hao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Neurology
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Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2025.1636992/full
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author Liping Yan
Jinping Zhang
Jian Zheng
Hua Hao
author_facet Liping Yan
Jinping Zhang
Jian Zheng
Hua Hao
author_sort Liping Yan
collection DOAJ
description 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.
format Article
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institution Kabale University
issn 1664-2295
language English
publishDate 2025-07-01
publisher Frontiers Media S.A.
record_format Article
series Frontiers in Neurology
spelling doaj-art-8e62c7f0703e4ddbb61dfbba8aff3c862025-08-20T03:51:25ZengFrontiers Media S.A.Frontiers in Neurology1664-22952025-07-011610.3389/fneur.2025.16369921636992Biomarkers in spinal muscular atrophyLiping Yan0Jinping Zhang1Jian Zheng2Hua Hao3Department of Pathology, Second Affiliated Hospital of Nanchang University, Nanchang, ChinaDepartment of Neurology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, ChinaDepartment of Pathology, Yangpu Hospital, School of Medicine, Tongji University, Shanghai, ChinaDepartment of Pathology, Yangpu Hospital, School of Medicine, Tongji University, Shanghai, ChinaSpinal 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.https://www.frontiersin.org/articles/10.3389/fneur.2025.1636992/fullSMASMN1molecular biomarkersphysiological biomarkersimaging biomarkers
spellingShingle Liping Yan
Jinping Zhang
Jian Zheng
Hua Hao
Biomarkers in spinal muscular atrophy
Frontiers in Neurology
SMA
SMN1
molecular biomarkers
physiological biomarkers
imaging biomarkers
title Biomarkers in spinal muscular atrophy
title_full Biomarkers in spinal muscular atrophy
title_fullStr Biomarkers in spinal muscular atrophy
title_full_unstemmed Biomarkers in spinal muscular atrophy
title_short Biomarkers in spinal muscular atrophy
title_sort biomarkers in spinal muscular atrophy
topic SMA
SMN1
molecular biomarkers
physiological biomarkers
imaging biomarkers
url https://www.frontiersin.org/articles/10.3389/fneur.2025.1636992/full
work_keys_str_mv AT lipingyan biomarkersinspinalmuscularatrophy
AT jinpingzhang biomarkersinspinalmuscularatrophy
AT jianzheng biomarkersinspinalmuscularatrophy
AT huahao biomarkersinspinalmuscularatrophy