State of play in amyotrophic lateral sclerosis genetics.
State of play in amyotrophic lateral sclerosis genetics.
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DOI：
10.1038/nn.3584
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发表时间：
2014-01
影响因子：
25
通讯作者：
Traynor BJ
中科院分区：
文献类型：
--
作者：
Renton AE;Chiò A;Traynor BJ
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Considerable progress has been made in unraveling the genetic etiology of amyotrophic lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the third most common neurodegenerative disease overall. Here we review genes implicated in the pathogenesis of motor neuron degeneration and how this new information is changing the way we think about this fatal disorder. Specifically, we summarize current literature of the major genes underlying ALS,SOD1,TARDBP,FUS,OPTN,VCP,UBQLN2,C9ORF72andPFN1, and evaluate the information being gleaned from genome-wide association studies. We also outline emerging themes in ALS research, such as next-generation sequencing approaches to identifyde novomutations, the genetic convergence of familial and sporadic ALS, the proposed oligogenic basis for the disease, and how each new genetic discovery is broadening the phenotype associated with the clinical entity we know as ALS.