Xiao Shangxi, McLean Jesse, Robertson Janice
Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto, Tanz Neuroscience Building, 6, Queen's Park Crescent West, Toronto, ON, Canada M5S 3H2.
Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):1001-12. doi: 10.1016/j.bbadis.2006.09.003. Epub 2006 Sep 12.
One of the pathological hallmarks of ALS is the presence of axonal spheroids and perikaryal accumulations/aggregations comprised of the neuronal intermediate filament proteins, neurofilaments and peripherin. These abnormalities represent a point of convergence of both familial and sporadic forms of the disease and understanding their formation may reveal shared pathways in what is otherwise considered a highly heterogeneous disorder. Here we provide a review of the basic biology of neurofilaments and peripherin and the evidence linking them with ALS disease pathogenesis.
肌萎缩侧索硬化症(ALS)的病理特征之一是存在由神经元中间丝蛋白、神经丝和外周蛋白组成的轴突球体和核周聚集物/聚集体。这些异常代表了该疾病家族性和散发性形式的一个交汇点,了解它们的形成可能揭示在其他方面被认为是高度异质性疾病中的共同途径。在此,我们综述神经丝和外周蛋白的基础生物学以及将它们与ALS疾病发病机制联系起来的证据。