Deng Han-Xiang, Zhai Hong, Fu Ronggen, Shi Yong, Gorrie George H, Yang Yi, Liu Erdong, Dal Canto Mauro C, Mugnaini Enrico, Siddique Teepu
Department of Neurology and Clinical Neurosciences, Northwestern University Institute for Neuroscience, Chicago, IL 60611, USA.
Hum Mol Genet. 2007 Dec 1;16(23):2911-20. doi: 10.1093/hmg/ddm251. Epub 2007 Sep 12.
Mutations in Alsin are associated with chronic juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. The primary pathology and pathogenic mechanism of the disease remain largely unknown. Here we show that alsin-deficient mice have motor impairment and degenerative pathology in the distal corticospinal tracts without apparent motor neuron pathology. Our data suggest that ALS2 is predominantly a distal axonopathy, rather than a neuronopathy in the central nervous system of the mouse model, implying that alsin plays an important role in maintaining the integrity of the corticospinal axons.
阿尔辛（Alsin）基因突变与慢性青少年肌萎缩侧索硬化症（ALS2）、青少年原发性侧索硬化症以及婴儿期起病的上行性痉挛性瘫痪相关。该疾病的主要病理学特征和致病机制在很大程度上仍不清楚。在此我们表明，缺乏阿尔辛的小鼠存在运动功能障碍以及皮质脊髓束远端的退行性病变，但无明显的运动神经元病变。我们的数据表明，在小鼠模型的中枢神经系统中，ALS2主要是一种远端轴突病，而非神经元病，这意味着阿尔辛在维持皮质脊髓轴突的完整性方面发挥着重要作用。
