Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (type I) to limited motor neuron loss and normal life expectancy (type IV). Without disease-modifying therapies, the impact is profound for patients and their families. Improved understanding of the molecular basis of SMA, disease pathogenesis, natural history, and recognition of the impact of standardized care on outcomes has yielded progress toward the development of novel therapeutic strategies and are summarized. Therapeutic strategies in the pipeline are appraised, ranging from SMN1 gene replacement to modulation of SMN2 encoded transcripts, to neuroprotection, to an expanding repertoire of peripheral targets, including muscle. With the advent of preliminary trial data, it can be reasonably anticipated that the SMA treatment landscape will transform significantly. Advancement in presymptomatic diagnosis and screening programs will be critical, with pilot newborn screening studies underway to facilitate preclinical diagnosis. The development of disease-modifying therapies will necessitate monitoring programs to determine the long-term impact, careful evaluation of combined treatments, and further acceleration of improvements in supportive care. In advance of upcoming clinical trial results, we consider the challenges and controversies related to the implementation of novel therapies for all patients and set the scene as the field prepares to enter an era of novel therapies. Ann Neurol 2017;81:355-368.

译文

:脊髓性肌萎缩症(SMA)是一种遗传性神经退行性疾病,其严重程度从进行性婴儿瘫痪和过早死亡(I型)到有限的运动神经元丧失和正常预期寿命(IV型)不等。如果没有改善疾病的疗法,对患者及其家属的影响将是深远的。对SMA分子基础,疾病发病机制,自然病史以及对标准化治疗对预后的影响的认识得到了更好的理解,这为新型治疗策略的发展带来了进步,并对其进行了总结。评估中的治疗策略包括SMN1基因替换,SMN2编码转录物的调节,神经保护以及包括肌肉在内的周围靶标的扩展库。随着初步试验数据的出现,可以合理地预期SMA治疗前景将发生重大变化。症状前诊断和筛查计划的进展将至关重要,目前正在进行试点新生儿筛查研究以促进临床前诊断。疾病缓解疗法的发展将需要制定监测计划,以确定长期影响,对联合治疗进行认真评估,并进一步加速支持治疗的改善。在即将到来的临床试验结果公布之前,我们考虑了为所有患者实施新疗法带来的挑战和争议,并为该领域准备进入新疗法时代做好了准备。 Ann Neurol 2017; 81:355-368。

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