Genetics of sporadic amyotrophic lateral sclerosis

被引：135

作者：

Schymick, J. C.

Talbot, K.

Traynor, B. J. ^{[1
]}

机构：

[1] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

[2] NIA, Neurogenet Lab, Bethesda, MD 20892 USA

[3] Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, England

[4] Univ Oxford, John Radcliffe Hosp, Dept Clin Neurol, Oxford OX3 9DU, England

[5] Johns Hopkins Univ Hosp, Dept Neurol, Baltimore, MD 21287 USA

来源：

HUMAN MOLECULAR GENETICS | 2007年 / 16卷

关键词：

D O I：

10.1093/hmg/ddm215

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. There is substantial evidence suggesting that ALS is a heritable disease, and a number of genes have been identified as being causative in familial ALS. In contrast, the genetics of the much commoner sporadic form of the disease is poorly understood and no single gene has been definitively shown to increase the risk of developing ALS. In this review, we discuss the genetic evidence for each candidate gene that has been putatively associated with increased risk of sporadic ALS. We also review whole genome association studies of ALS and discuss the potential of this methodology for identifying genes relevant to motor neuron degeneration.

引用

页码：R233 / R242

页数：10

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