Genetics of amyotrophic lateral sclerosis: A review

被引:170
作者
Mathis, Stephane [1 ,2 ]
Goizet, Cyril [3 ,4 ]
Soulages, Antoine [1 ]
Vallat, Jean-Michel [5 ]
Le Masson, Gwendal [1 ,6 ,7 ]
机构
[1] Univ Bordeaux, Pellegrin Hosp, CHU Bordeaux, Dept Neurol,Nerve Muscle Unit, F-33000 Bordeaux, France
[2] Univ Bordeaux, Pellegrin Hosp, CHU Bordeaux, ALS Ctr,Nerve Muscle Unit, F-33000 Bordeaux, France
[3] Univ Bordeaux, Pellegrin Hosp, CHU Bordeaux, Dept Med Genet,Ctr Reference Malad Rares Neurogen, F-33000 Bordeaux, France
[4] INSERM U1211, Lab MRGM, F-33000 Bordeaux, France
[5] Ctr Reference Neuropathies Rares, Dept Neurol, 2 Ave Martin Luther King, F-87000 Limoges, France
[6] Univ Bordeaux, Neuroctr Magendie Physiopathol Plasticite Neurona, U862, F-33000 Bordeaux, France
[7] INSERM, Neuroctr Magendie Physiopathol Plasticite Neurona, U862, F-33000 Bordeaux, France
关键词
Amyotrophic lateral sclerosis; Genetics; C9ORF72; SOD1; TDP-43; FUS; Classification; MOTOR-NEURON DISEASE; RNA-BINDING PROTEIN; SPINAL MUSCULAR-ATROPHY; SUPEROXIDE-DISMUTASE; EPIDEMIOLOGIC INVESTIGATIONS; FRONTOTEMPORAL DEMENTIA; HEXANUCLEOTIDE REPEAT; ALS; MUTATIONS; FUS;
D O I
10.1016/j.jns.2019.02.030
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways, invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but familial forms of the disease (FALS) constitute 10% of the cases. Since the first identification of a causative gene in the 1990s and with recent advances in genetics, more than twenty genes have now been linked to FALS. This increased number of genes led to a tremendous amount of research, clearly contributed to a better understanding of the pathophysiology of this disorder, and paved the way for the development of new therapeutics and new hope for this fatal disease.
引用
收藏
页码:217 / 226
页数:10
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