Genetics of amyotrophic lateral sclerosis: A review

被引：180

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

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2019年 / 399卷

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

页码：217 / 226

页数：10

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