Laboratory of Neurobiology, VIB Vesalius Research Center, 3000 Leuven, Belgium.
Nat Rev Neurosci. 2013 Apr;14(4):248-64. doi: 10.1038/nrn3430. Epub 2013 Mar 6.
Several recent breakthroughs have provided notable insights into the pathogenesis of amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this neurodegenerative disease and raising the question as to whether this disorder is a proteinopathy, a ribonucleopathy or both. In addition, these breakthroughs have revealed mechanistic links between ALS and frontotemporal dementia, as well as between ALS and other neurodegenerative diseases, such as the cerebellar atrophies, myotonic dystrophy and inclusion body myositis. Here, we summarize the new findings in ALS research, discuss what they have taught us about this disease and examine issues that are still outstanding.
最近的一些突破为肌萎缩侧索硬化症（ALS）的发病机制提供了重要的见解，其中一些甚至改变了我们对这种神经退行性疾病的看法，并提出了这样一个问题：这种疾病是一种蛋白质病、一种核糖核蛋白病，还是两者兼有。此外，这些突破还揭示了 ALS 与额颞叶痴呆以及 ALS 与其他神经退行性疾病（如小脑萎缩、肌强直性营养不良和包涵体肌炎）之间的机制联系。在这里，我们总结了 ALS 研究的新发现，讨论了它们使我们对这种疾病有了哪些认识，并探讨了仍然存在的问题。
