Genetic and epigenetic studies of amyotrophic lateral sclerosis

被引：22

作者：

Al-Chalabi, Ammar ^{[1
]}

Kwak, Shin ^{[2
]}

Mehler, Mark ^{[3
,4
,5
]}

Rouleau, Guy ^{[6
]}

Siddique, Teepu ^{[7
]}

Strong, Michael ^{[8
]}

Leigh, Peter Nigel ^{[9
]}

机构：

[1] Kings Coll London, Inst Psychiat, Dept Clin Neurosci, London SE5 8AF, England

[2] Univ Tokyo, Ctr Dis Biol & Integrat Med, Dept Neurol, Tokyo, Japan

[3] Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA

[4] Albert Einstein Coll Med, Dept Neurosci & Psychiat, Bronx, NY 10467 USA

[5] Albert Einstein Coll Med, Dept Behav Sci, Bronx, NY 10467 USA

[6] McGill Univ, Montreal Neurol Inst & Hosp, Dept Neurol & Neurosurg, Montreal, PQ H3A 2T5, Canada

[7] Northwestern Univ, Feinberg Sch Med, Dept Neurol, Chicago, IL 60611 USA

[8] Univ Western Ontario, Dept Clin Neurol Sci, London, ON, Canada

[9] Univ Sussex, Brighton & Sussex Med Sch, Dept Neurol, Brighton BN1 9RH, E Sussex, England

来源：

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION | 2013年 / 14卷

基金：

加拿大健康研究院;

关键词：

ALS; genetic; epigenetic; familial ALS; modifier genes; GENOME-WIDE ASSOCIATION; SPINOCEREBELLAR ATAXIA 2; HEXANUCLEOTIDE REPEAT; TARDBP MUTATIONS; ALS; SUSCEPTIBILITY; DEATH; TDP-43; ONSET; RECEPTORS;

D O I：

10.3109/21678421.2013.778571

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The identification of genetic and epigenetic factors that are associated with an increased risk of developing amyotrophic lateral sclerosis (ALS), or that modify the age of onset or rate of progression, requires a multimodal research strategy, facilitated through international collaboration. The discovery of several ALS genes strongly linked to RNA biology, the proteasome pathway, and axonal transport suggest they have an important role in pathogenesis, but the immense complexity of these processes is also apparent. The increasing rate of genetic discoveries brings the hope of designing more targeted and efficacious therapies.

引用

页码：44 / 52

页数：9

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