额颞叶痴呆和肌萎缩侧索硬化症：遗传上的联系。
FTD and ALS: genetic ties that bind.
机构信息
Institute for Translational Neuroscience, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA.
出版信息
Neuron. 2011 Oct 20;72(2):189-90. doi: 10.1016/j.neuron.2011.10.001.
Curiously, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), seemingly disparate neurodegenerative disorders, can be inherited together. Two groups (DeJesus-Hernandez et al. and Renton et al.) show that the long sought after ALS/FTD mutation on chromosomal region 9p is a hexanucleotide expansion in C90RF72. These studies, plus a study on X-linked ALS/FTD, provide molecular starting points for identifying pathways that link ALS and FTD pathogenesis.
奇怪的是，肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD），两种看似不同的神经退行性疾病，也可能遗传相关。两组（DeJesus-Hernandez 等人和 Renton 等人）表明，人们长期以来一直寻求的染色体 9p 区域的 ALS/FTD 突变是 C90RF72 中六核苷酸的扩展。这些研究，加上对 X 连锁 ALS/FTD 的研究，为确定将 ALS 和 FTD 发病机制联系起来的途径提供了分子起点。
Zotero 插件