Spinal Muscular Atrophy
Spinal Muscular Atrophy
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DOI：
10.1016/j.ncl.2015.07.004
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发表时间：
2015-11-01
影响因子：
2.4
通讯作者：
Kissel, John T.
中科院分区：
文献类型：
--
作者：
Kolb, Stephen J.;Kissel, John T.
脊髓性肌萎缩症是一种常染色体隐性遗传病，其特征是脊髓运动神经元变性，由存活运动神经元1基因SMN1突变引起。SMA的严重程度是可变的。SMN2基因产生SMN1基因产生的SMN信使RNA(MRNA)转录本的一部分。SMN2基因拷贝数与临床严重程度呈负相关。临床管理侧重于多学科护理。SMA的临床前模型导致了SMA临床试验的爆炸性增长，这些试验为未来的有效治疗带来了巨大的希望。
Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene. There is an inverse correlation between SMN2 gene copy number and clinical severity. Clinical management focuses on multidisciplinary care. Preclinical models of SMA have led to an explosion of SMA clinical trials that hold great promise of effective therapy in the future.