The disease course of amyotrophic lateral sclerosis (ALS) is rapid and, because its pathophysiology is unclear, few effective treatments are available. Genetic research aims to understand the underlying mechanisms of ALS and identify potential therapeutic targets. The first gene associated with ALS was SOD1, identified in 1993 and, by early 2014, more than 20 genes had been identified as causative of, or highly associated with, ALS. These genetic discoveries have identified key disease pathways that are therapeutically testable and could potentially lead to the development of better treatments for people with ALS.

中文翻译：

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与肌萎缩性侧索硬化症相关的新基因：诊断和临床意义。

肌萎缩性侧索硬化症（ALS）的病程很快，并且由于其病理生理尚不清楚，因此很少有有效的治疗方法。遗传研究旨在了解ALS的潜在机制并确定潜在的治疗靶标。与ALS相关的第一个基因是1993年鉴定出的SOD1，到2014年初，已鉴定出20多个基因是ALS的致病原因或与其高度相关。这些遗传发现已经确定了可治疗测试的关键疾病途径，并且可能潜在地导致为ALS患者开发更好的治疗方法。