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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-07-01
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| 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 |
| id | doaj-art-8e62c7f0703e4ddbb61dfbba8aff3c86 |
| 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 |