SMN1型
脊髓性肌萎缩
医学
运动神经元
发病机制
疾病
脊髓
萎缩
生物信息学
病理
弱点
临床试验
肌肉萎缩
神经科学
生物
解剖
精神科
作者
Mitchell R. Lunn,Ching H. Wang
出处
期刊:The Lancet
[Elsevier]
日期:2008-06-01
卷期号:371 (9630): 2120-2133
被引量:889
标识
DOI:10.1016/s0140-6736(08)60921-6
摘要
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness. It is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion, or mutation. Although no medical treatment is available, investigations have elucidated possible mechanisms underlying the molecular pathogenesis of the disease. Treatment strategies have been developed to use the unique genomic structure of the SMN1 gene region. Several candidate treatment agents have been identified and are in various stages of development. These and other advances in medical technology have changed the standard of care for patients with spinal muscular atrophy. In this Seminar, we provide a comprehensive review that integrates clinical manifestations, molecular pathogenesis, diagnostic strategy, therapeutic development, and evidence from clinical trials.
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