Progress in the pathogenesis of amyotrophic lateral sclerosis.

被引：53

作者：

Shaw C.E. ^{[1
]}

Al-Chalabi A. ^{[2
]}

Leigh N. ^{[2
]}

机构：

[1] Department of Neurology, Guy’s, King’s, and St. Thomas’ School of Medicine, Institute of Psychiatry, London SE5 8AS, De Crespigny Park

[2] Department of Medical and Molecular Genetics, Guy’s, King’s, and St. Thomas’ School of Medicine, London

来源：

Current Neurology and Neuroscience Reports | 2001年 / 1卷 / 1期

关键词：

Amyotrophic Lateral Sclerosis; Motor Neuron; Motor Neuron Disease; Sporadic Amyotrophic Lateral Sclerosis; Familial Amyotrophic Lateral Sclerosis;

D O I：

10.1007/s11910-001-0078-7

中图分类号：

学科分类号：

摘要：

This decade has seen the discovery of one cause for amyotrophic lateral sclerosis (ALS)--mutations in the copper/zinc superoxide dismutase (SOD1) gene. Mutant SOD1 has provided an invaluable tool for transgenic and cellular experiments designed to elicit the biochemical pathways that are disturbed in ALS. We highlight recent advances in ALS research, including diagnostic issues, new loci for ALS genes, and progress in understanding the toxicity of mutant SOD1. The evidence for persistant viral infection, glutamate-mediated excitotoxicity, oxidative stress, altered neurofilament and peripherin expression, disrupted axonal transport, neurotrophin deficiency, and mitochondrial dysfunction are critically reviewed. As yet, no consensus has been achieved on the pathways that lead to selective neuronal death, and the underlying causes are still unknown in the vast majority of patients. Further clues about genetic susceptibility and environmental triggers are urgently needed so that more effective treatments for ALS can be developed, with the ultimate goal being prevention.

引用

页码：69 / 76

页数：7

共 67 条

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