Genetics of amyotrophic lateral sclerosis
Genetics of amyotrophic lateral sclerosis
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DOI：
10.1016/j.neurol.2017.03.030
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发表时间：
2017-05-01
影响因子：
3
通讯作者：
Vourc'h, P.
中科院分区：
文献类型：
--
作者：
Corcia, P.;Couratier, P.;Vourc'h, P.
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease characterized by upper and lower motor neuron damage in the bulbar and spinal territories. Although the pathophysiology of ALS is still unknown, the involvement of genetic factors is no longer a subject of debate. Familial ALS (fALS) accounts for 10-20% of cases. Since the identification of the SOD1 gene, more than 20 genes have been described, of which four can explain >50% of familial cases. This review is an update focused on major aspects of the field of ALS genetics concerning both causative and susceptibility factors. (C) 2017 Elsevier Masson SAS. All rights reserved.
