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散发性肌萎缩侧索硬化症的遗传学

Genetics of sporadic amyotrophic lateral sclerosis.

作者信息

Schymick J C, Talbot K, Traynor B J

机构信息

Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK.

出版信息

Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R233-42. doi: 10.1093/hmg/ddm215.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. There is substantial evidence suggesting that ALS is a heritable disease, and a number of genes have been identified as being causative in familial ALS. In contrast, the genetics of the much commoner sporadic form of the disease is poorly understood and no single gene has been definitively shown to increase the risk of developing ALS. In this review, we discuss the genetic evidence for each candidate gene that has been putatively associated with increased risk of sporadic ALS. We also review whole genome association studies of ALS and discuss the potential of this methodology for identifying genes relevant to motor neuron degeneration.

摘要

肌萎缩侧索硬化症(ALS)是一种致命的神经退行性疾病,其临床特征为迅速进展的瘫痪,最终因呼吸衰竭而死亡。有大量证据表明ALS是一种遗传性疾病,并且已经确定了一些基因是家族性ALS的致病因素。相比之下,对于这种疾病更为常见的散发性形式的遗传学了解甚少,尚未明确证明有单个基因会增加患ALS的风险。在本综述中,我们讨论了每个被推测与散发性ALS风险增加相关的候选基因的遗传学证据。我们还回顾了ALS的全基因组关联研究,并讨论了这种方法在识别与运动神经元变性相关基因方面的潜力。

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