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Amyotrophic lateral sclerosis: update and new developments

机译:肌萎缩性侧索硬化症:更新和新发展

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Abstract: Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. It is typically characterized by adult-onset degeneration of the upper and lower motor neurons, and is usually fatal within a few years of onset. A subset of ALS patients has an inherited form of the disease, and a few of the known mutant genes identified in familial cases have also been found in sporadic forms of ALS. Precisely how the diverse ALS-linked gene products dictate the course of the disease, resulting in compromised voluntary muscular ability, is not entirely known. This review addresses the major advances that are being made in our understanding of the molecular mechanisms giving rise to the disease, which may eventually translate into new treatment options.
机译:摘要:肌萎缩性侧索硬化症(ALS)是运动神经元疾病的最常见形式。它通常以成人运动的上,下运动神经元变性为特征,通常在发病数年内致命。一部分ALS患者具有该疾病的遗传形式,并且在散发性ALS中也发现了一些在家族病例中鉴定出的已知突变基因。尚不完全清楚各种ALS连锁基因产物如何决定疾病的进程,从而导致自愿性肌肉功能受损。这篇综述阐述了我们对引起疾病的分子机制的理解所取得的重大进展,这些疾病最终可能会转化为新的治疗选择。

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