家族性 ALS/FTD：重复突变与 ALS/FTD。
All in the Family: Repeats and ALS/FTD.
机构信息
Center for Neurogenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Departments of Molecular Genetics and Neurology, College of Medicine, University of Florida, Gainesville, FA, USA.
Center for Neurogenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Departments of Molecular Genetics and Neurology, College of Medicine, University of Florida, Gainesville, FA, USA; McKnight Brain Institute, University of Florida, Gainesville, FL, USA; Genetics Institute, University of Florida, Gainesville, FL, USA.
出版信息
Trends Neurosci. 2018 May;41(5):247-250. doi: 10.1016/j.tins.2018.03.010.
Abstract
In 2011, an intronic (GC)•(GC) expansion was shown to cause the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This discovery linked ALS with a clinically distinct form of dementia and a larger group of microsatellite repeat diseases, and catalyzed basic and translational research.
摘要
2011 年，研究表明内含子（GC）•（GC）扩展会导致最常见的肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）。这一发现将 ALS 与一种临床上明显不同的痴呆症以及更大的微卫星重复疾病联系起来，并推动了基础和转化研究。
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