Spinal Muscular Atrophy

被引：454

作者：

Kolb, Stephen J. ^{[1
,2
]}

Kissel, John T. ^{[1
]}

机构：

[1] Ohio State Univ, Wexner Med Ctr, Dept Neurol, Columbus, OH 43210 USA

[2] Ohio State Univ, Wexner Med Ctr, Dept Biol Chem & Pharmacol, Columbus, OH 43210 USA

来源：

NEUROLOGIC CLINICS | 2015年 / 33卷 / 04期

关键词：

Spinal muscular atrophy; Motor neuron; Survival motor neuron gene; SMN1; SMN2; SURVIVAL-MOTOR-NEURON; TERM VENTILATORY SUPPORT; NATURAL-HISTORY; MOUSE MODEL; NONINVASIVE VENTILATION; RESPIRATORY MANAGEMENT; CONSENSUS STATEMENT; INTRONIC REPRESSOR; MUSCLE ATROPHY; ANIMAL-MODEL;

D O I：

10.1016/j.ncl.2015.07.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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.

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收藏

页码：831 / +

页数：17

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