Morrison K E
Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
Mol Med Today. 1995 Jul;1(4):195-201. doi: 10.1016/s1357-4310(95)91930-9.
Motor neurone disease is a rapidly progressive neurodegenerative disorder, characterized by muscular weakness and wasting with fasciculation and by spasticity. While most cases are sporadic, approximately 10% are inherited in an autosomal dominant mode. Recently, mutations in the gene encoding the free-radical scavenging enzyme superoxide dismutase-1 have been found to segregate with the disorder in 20% of familial cases. This is an exciting development, as free radical damage has long been implicated in the pathogenesis of motor neurone disease and it raises the possibility of novel therapeutic approaches in this otherwise fatal condition.
运动神经元病是一种快速进展的神经退行性疾病，其特征为肌肉无力、萎缩伴肌束震颤以及痉挛。虽然大多数病例是散发性的，但约10%呈常染色体显性遗传模式。最近发现，在20%的家族性病例中，编码自由基清除酶超氧化物歧化酶-1的基因突变与该疾病相关。这是一个令人兴奋的进展，因为自由基损伤长期以来一直被认为与运动神经元病的发病机制有关，并且这增加了在这种致命疾病中采用新治疗方法的可能性。
