Pratt Ashley J, Getzoff Elizabeth D, Perry J Jefferson P
Department of Molecular Biology and The Skaggs Institute for Chemical Biology, The Scripps Research Institute, La Jolla, CA 92037, USA.
Degener Neurol Neuromuscul Dis. 2012 Feb;2012(2):1-14. doi: 10.2147/DNND.S19803.
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. It is typically characterized by adult-onset degeneration of the upper and lower motor neurons, and is usually fatal within a few years of onset. A subset of ALS patients has an inherited form of the disease, and a few of the known mutant genes identified in familial cases have also been found in sporadic forms of ALS. Precisely how the diverse ALS-linked gene products dictate the course of the disease, resulting in compromised voluntary muscular ability, is not entirely known. This review addresses the major advances that are being made in our understanding of the molecular mechanisms giving rise to the disease, which may eventually translate into new treatment options.
肌萎缩侧索硬化症（ALS）是运动神经元疾病最常见的形式。其典型特征是成人期上、下运动神经元变性，通常在发病后几年内致命。一部分ALS患者患有遗传性疾病，在家族性病例中鉴定出的一些已知突变基因也在散发性ALS病例中被发现。目前尚不完全清楚各种与ALS相关的基因产物如何决定疾病进程，导致自主肌肉能力受损。本综述阐述了我们在理解引发该疾病的分子机制方面取得的重大进展，这些进展最终可能转化为新的治疗选择。
