肌萎缩侧索硬化症的分子病理学、诊断和治疗进展。

Jefferson Weinberg ALS Center, Thomas Jefferson University, Philadelphia, PA, USA.

Tufts University School of Medicine, Boston, Massachusetts, MA, USA.

BMJ. 2023 Oct 27;383:e075037. doi: 10.1136/bmj-2023-075037.

Although the past two decades have produced exciting discoveries in the genetics and pathology of amyotrophic lateral sclerosis (ALS), progress in developing an effective therapy remains slow. This review summarizes the critical discoveries and outlines the advances in disease characterization, diagnosis, imaging, and biomarkers, along with the current status of approaches to ALS care and treatment. Additional knowledge of the factors driving disease progression and heterogeneity will hopefully soon transform the care for patients with ALS into an individualized, multi-prong approach able to prevent disease progression sufficiently to allow for a dignified life with limited disability.

尽管过去二十年在肌萎缩侧索硬化症（ALS）的遗传学和病理学方面取得了令人兴奋的发现，但开发有效疗法的进展仍然缓慢。本综述总结了关键发现，并概述了疾病特征、诊断、影像学和生物标志物方面的进展，以及 ALS 护理和治疗的现状。对推动疾病进展和异质性的因素有了更多的了解，有望很快将 ALS 患者的护理转变为个体化、多管齐下的方法，能够充分阻止疾病进展，从而使患者能够在有限的残疾情况下过上有尊严的生活。