肌萎缩侧索硬化的诊疗进展

doi:10.3969/j.issn.1003-9198.2025.02.005

摘要/Abstract

摘要： 肌萎缩侧索硬化(amyotrophic lateral sclerosis, ALS)俗称渐冻症,是一种主要累及大脑皮层、脑干和脊髓的上、下运动神经元的神经系统变性疾病,主要临床表现为进行性进展的骨骼肌无力、肌肉萎缩、延髓麻痹和锥体束征。ALS的早期临床表现具有高度异质性,而且缺乏特异的生物学确诊指标,使其早期诊断具有挑战性。体液、成像技术、神经电生理等生物标志物研究有助于提高其早期诊断准确性。治疗上,虽有已获批的小分子药物,但效果有限;靶向神经炎症药物、基因治疗如多种反义寡核苷酸(ASOs)及细胞-基因联合治疗是ALS治疗的新方向;未来,早期诊断生物标志物和多靶点药物的研究将会更好地促进ALS的早期诊断和治疗,以延缓疾病进展、改善生存质量和延长生存时间。

关键词: 肌萎缩侧索硬化, 诊断, 治疗, 生物标志物

Abstract: Amyotrophic lateral sclerosis(ALS) is a neurodegenerative disease that mainly affects the cerebral cortex, brainstem and the upper and lower motor neurons of spinal cord. Its main clinical manifestations include progressive skeletal muscle weakness, muscle atrophy, bulbar palsy and pyramidal tract signs. The early clinical manifestations of ALS are highly heterogeneous, and the lack of specific biomarkers pose a challenge in its early diagnosis. The research progress in biomarkers such as body fluids, imaging, and neuroelectrophysiology is helpful for improving the accuracy of its early diagnosis.In term of treatment, although there are some approved small molecule drugs, the efficacy is limited. Drugs targeting neuroinflammation, gene therapies such as various antisense oligonucleotides(ASOs), and cell-gene therapies are new directions for ALS therapy. In addition, the treatment with ropinirole has achieved some exploratory results. In the future, the research on early diagnostic biomarkers and multi-target drugs will significantly promote the early diagnosis and treatment of ALS, in order to delay disease progression, improve the quality of life and prolong the survival time.

Key words: amyotrophic lateral sclerosis, diagnosis, treatment, biomarkers

中图分类号:

R 746.4

王杰, 都爱莲. 肌萎缩侧索硬化的诊疗进展[J]. 实用老年医学, 2025, 39(2): 127-133.

WANG Jie, DU Ailian. Advances in the diagnosis and treatment of amyotrophic lateral sclerosis[J]. Practical Geriatrics, 2025, 39(2): 127-133.

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