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
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
收藏
页码:R233 / R242
页数:10
相关论文
共 50 条
  • [1] Genetics of familial and sporadic amyotrophic lateral sclerosis
    Gros-Louis, Francois
    Gaspar, Claudia
    Rouleau, Guy A.
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2006, 1762 (11-12): : 956 - 972
  • [2] Genetics of amyotrophic lateral sclerosis
    Pizzuti, A
    Caputo, V
    GIORNALE DI NEUROPSICOFARMACOLOGIA, 2003, 25 (04): : 145 - 149
  • [3] The genetics of amyotrophic lateral sclerosis
    Nijs, Melissa
    Van Damme, Philip
    CURRENT OPINION IN NEUROLOGY, 2024, 37 (05) : 560 - 569
  • [4] Genetics of amyotrophic lateral sclerosis
    W. Robberecht
    Journal of Neurology, 2000, 247 (Suppl 6) : VI2 - VI6
  • [5] Genetics of amyotrophic lateral sclerosis
    Corcia, Philippe
    Blasco, Helene
    Camu, William
    PRESSE MEDICALE, 2014, 43 (05): : 555 - 562
  • [6] Genetics of amyotrophic lateral sclerosis
    Robberecht, W
    JOURNAL OF NEUROLOGY, 2000, 247 : 2 - 6
  • [7] Genetics of amyotrophic lateral sclerosis
    Siddique, T
    Deng, HX
    HUMAN MOLECULAR GENETICS, 1996, 5 : 1465 - 1470
  • [8] Genetics of amyotrophic lateral sclerosis
    Huebers, A.
    Weishaupt, J. H.
    Ludolph, A. C.
    NERVENARZT, 2013, 84 (10): : 1213 - +
  • [9] Genetics of Amyotrophic Lateral Sclerosis
    Siddique, Nailah
    Siddique, Teepu
    PHYSICAL MEDICINE AND REHABILITATION CLINICS OF NORTH AMERICA, 2008, 19 (03) : 429 - +
  • [10] Genetics of amyotrophic lateral sclerosis
    Andersen, PM
    ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA, 2001, 101 (03): : 54 - 63