Perspectives in Motor Neuron Disease and Amyotrophic Lateral Sclerosis

B. Kakulas
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Abstract

Several genetic makers have been identified as predisposing factors in the aetiology of motor neuron disease, MND /ALS. Chief among these are mutations in the SOD1 gene but many other aberration of the genome have been implicated mainly in the form of structural variants (SVs). Comparison is made between sporadic MND/ALS and a similar degenerative disorder endemic on the island of Guam known to be caused by Cycad toxicity. The long incubation period of both conditions points to a complex time-dependent pathogenesis.
运动神经元疾病和肌萎缩侧索硬化症的研究进展
几个基因制造者已被确定为运动神经元疾病MND /ALS病因的易感因素。其中主要是SOD1基因的突变,但许多其他基因组畸变主要以结构变异(SVs)的形式存在。将散发的MND/ALS与已知由苏铁毒性引起的关岛岛上的一种类似的退行性疾病进行比较。这两种疾病的潜伏期都很长,表明其发病机制具有复杂的时间依赖性。
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