Amyotrophic lateral sclerosis: update and new developments.
Amyotrophic lateral sclerosis: update and new developments.
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DOI：
10.2147/dnnd.s19803
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发表时间：
2012-02
影响因子：
4
通讯作者：
Perry JJ
中科院分区：
文献类型：
--
作者：
Pratt AJ;Getzoff ED;Perry JJ
肌萎缩侧索硬化症（ALS）是运动神经元疾病的最常见形式。它的典型特征是成年发作的上、下运动神经元变性，通常在发病后几年内致命。ALS患者的一个子集具有遗传形式的疾病，并且在家族性病例中鉴定的一些已知突变基因也在ALS的散发形式中发现。各种ALS连锁基因产物如何精确地决定疾病的进程，导致随意肌肉能力受损，尚不完全清楚。本文综述了我们对引起这种疾病的分子机制的理解所取得的重大进展，这些进展最终可能转化为新的治疗方案。
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.