脊髓性肌萎缩症
Spinal Muscular Atrophy.
作者信息
Kolb Stephen J, Kissel John T
机构信息
Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH 43210-1228, USA.
Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
出版信息
Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015.07.004.
Abstract
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.
摘要
脊髓性肌萎缩症是一种常染色体隐性疾病，其特征为脊髓运动神经元退化，由生存运动神经元1基因（SMN1）突变引起。脊髓性肌萎缩症的严重程度各不相同。SMN2基因产生的SMN信使核糖核酸（mRNA）转录本占SMN1基因产生量的一部分。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。脊髓性肌萎缩症的临床前模型已引发了大量脊髓性肌萎缩症临床试验，这些试验有望在未来带来有效的治疗方法。
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Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.采用多重实时聚合酶链反应的新生儿血斑筛查试验，用于同时筛查脊髓性肌萎缩症和重症联合免疫缺陷病。
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