Suppr超能文献

了解肌萎缩侧索硬化症:病理生理学、诊断和治疗进展。

Understanding Amyotrophic Lateral Sclerosis: Pathophysiology, Diagnosis, and Therapeutic Advances.

机构信息

Department of Neurosurgery, University of Medicine and Pharmacy, "Carol Davila", 020021 Bucharest, Romania.

Department of Neurosurgery, "Bagdasar-Arseni" Clinical Emergency Hospital, 041915 Bucharest, Romania.

出版信息

Int J Mol Sci. 2024 Sep 15;25(18):9966. doi: 10.3390/ijms25189966.

Abstract

This review offers an in-depth examination of amyotrophic lateral sclerosis (ALS), addressing its epidemiology, pathophysiology, clinical presentation, diagnostic techniques, and current as well as emerging treatments. The purpose is to condense key findings and illustrate the complexity of ALS, which is shaped by both genetic and environmental influences. We reviewed the literature to discuss recent advancements in understanding molecular mechanisms such as protein misfolding, mitochondrial dysfunction, oxidative stress, and axonal transport defects, which are critical for identifying potential therapeutic targets. Significant progress has been made in refining diagnostic criteria and identifying biomarkers, leading to earlier and more precise diagnoses. Although current drug treatments provide some benefits, there is a clear need for more effective therapies. Emerging treatments, such as gene therapy and stem cell therapy, show potential in modifying disease progression and improving the quality of life for ALS patients. The review emphasizes the importance of continued research to address challenges such as disease variability and the limited effectiveness of existing treatments. Future research should concentrate on further exploring the molecular foundations of ALS and developing new therapeutic approaches. The implications for clinical practice include ensuring the accessibility of new treatments and that healthcare systems are equipped to support ongoing research and patient care.

摘要

这篇综述深入探讨了肌萎缩侧索硬化症(ALS),涵盖其流行病学、病理生理学、临床表现、诊断技术以及现有和新兴的治疗方法。旨在总结关键发现,并说明 ALS 的复杂性,其受到遗传和环境因素的共同影响。我们回顾了文献,讨论了在理解分子机制方面的最新进展,如蛋白质错误折叠、线粒体功能障碍、氧化应激和轴突运输缺陷,这些对于确定潜在的治疗靶点至关重要。在细化诊断标准和识别生物标志物方面取得了显著进展,从而实现了更早、更精确的诊断。尽管目前的药物治疗提供了一些益处,但显然需要更有效的治疗方法。新兴的治疗方法,如基因治疗和干细胞治疗,在改变疾病进展和提高 ALS 患者生活质量方面显示出潜力。综述强调了持续研究的重要性,以应对疾病变异性和现有治疗方法效果有限等挑战。未来的研究应集中于进一步探索 ALS 的分子基础,并开发新的治疗方法。这对临床实践的影响包括确保新治疗方法的可及性,以及医疗体系有能力支持正在进行的研究和患者护理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb90/11432652/17f2f40b6b89/ijms-25-09966-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验