title: Genetics of sporadic amyotrophic lateral sclerosis.
abstract: 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.
authors.affiliation: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK.
authors.forename: J C
authors.initials: JC
authors.lastname: Schymick
authors.forename: K
authors.initials: K
authors.lastname: Talbot
authors.forename: B J
authors.initials: BJ
authors.lastname: Traynor
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D043303:Aryldialkylphosphatase / Q000235:genetics; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics; D000072159:Dynactin Complex; D056827:Endosomal Sorting Complexes Required for Transport; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D007381:Intermediate Filament Proteins / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D008869:Microtubule-Associated Proteins / Q000235:genetics; D009410:Nerve Degeneration / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D016900:Neurofilament Proteins / Q000235:genetics; D064531:Peripherins; D000077153:Progranulins; D016601:RNA-Binding Proteins / Q000235:genetics; D012259:Ribonuclease, Pancreatic / Q000235:genetics; D055532:SMN Complex Proteins; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics
chemical_list: C503812:CHMP2B protein, human; D017362:Cyclic AMP Response Element-Binding Protein; D000072159:Dynactin Complex; D056827:Endosomal Sorting Complexes Required for Transport; C492314:GRN protein, human; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D036341:Intercellular Signaling Peptides and Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D008869:Microtubule-Associated Proteins; D009419:Nerve Tissue Proteins; D016900:Neurofilament Proteins; D064531:Peripherins; D000077153:Progranulins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C000606290:SOD1 protein, human; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; C044882:neurofilament protein L; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; C046366:angiogenin; D012259:Ribonuclease, Pancreatic; D043303:Aryldialkylphosphatase; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase