280
Views
7
CrossRef citations to date
0
Altmetric
Research Article

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study

, , , , , , , , , , , , , , , , , , , , & show all
Pages 580-584 | Received 09 May 2012, Accepted 16 Jun 2012, Published online: 08 Aug 2012

References

  • Kiernan M, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, . Amyotrophic lateral sclerosis. Lancet. 2011;377:942–55.
  • Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol. 2011;7:603–15.
  • Simpson CL, Al-Chalabi A. Amyotrophic lateral sclerosis as a complex genetic disease. Biochim Biophys Acta. 2006;1762:973–85.
  • Al-Chalabi A, Lewis CM. Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Hum Hered. 2011;71:281–8.
  • Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, . FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2011;32:550.e1–4.
  • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, . A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron. 2011;72:257–68.
  • Lattante S, Conte A, Zollino M, Luigetti M, del Grande A, Marangi G, . Contribution of major amyotrophic lateral sclerosis genes to the aetiology of sporadic disease. Neurology. 2012;79:66–72.
  • Pritchard JK. Are Rare Variants Responsible for Susceptibility to Complex Diseases? Am J Hum Genet. 2001;69:124–37.
  • Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet. 2008;40:695–701.
  • Sabatelli M, Eusebi F, Al-Chalabi A, Conte A, Madia F, Luigetti M, . Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2006;18:3997–4006.
  • Brooks BR, El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis.Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ‘Clinical limits of amyotrophic lateral sclerosis’ workshop contributors. J Neurol Sci. 1994:124:S96–107.
  • Dajas-Bailador F, Wonnacott S. Nicotinic acetylcholine receptors and the regulation of neuronal signalling. Trends Pharmacol Sci. 2004;25:317–24.
  • Gotti C, Clementi F, Fornari A, Gaimarri A, Guiducci S, Manfredi I, . Structural and functional diversity of native brain neuronal nicotinic receptors. Biochem Pharmacol. 2009;78:703–11.
  • Akaike A, Takada-Takatori Y, Kume T, Izum Y. Mechanisms of neuroprotective effects of nicotine and acetylcholinesterase inhibitors: role of alpha4 and alpha7 receptors in neuroprotection. J Mol Neurosci.2010;40:211–6.
  • Keiger CJ, Prevette D, Conroy WG, Oppenheim RW. Developmental expression of nicotinic receptors in the chick and human spinal cord. J Comp Neurol.2003;455: 86–99.
  • Khan I, Osaka H, Stanislaus S, Calvo RM, Deerinck T, Yaksh TL, . Nicotinic acetylcholine receptor distribution in relation to spinal neurotransmission pathways. J Comp Neurol. 2003;467:44–59.
  • Nakamizo, T, Kawamata, J, Yamashita H, Kanki R, Kihara T, Sawada H, . Stimulation of nicotinic acetylcholine receptors protects motor neurons. Biochem Biophys Res Commun. 2005;330:1285–9.
  • Ogier R, Liu X, Tribollet E, Bertrand D, Raggenbass M. Identified spinal motor neurons of young rats possess nicotinic acetylcholine receptors of the heteromeric family. Eur J Neurosci. 2004;20:2591–7.
  • Zaninetti M, Tribollet E, Bertrand D, Raggenbass M. Presence of functional neuronal nicotinic acetylcholine receptors in brainstem motor neurons of the rat. Eur J Neurosci. 1999;11:2737–48.
  • Dourado M, Sargent PB. Properties of nicotinic receptors underlying Renshaw cell excitation by alpha-motor neurons in neonatal rat spinal cord. J Neurophysiol. 2002;87: 3117–25.
  • Barbagallo B, Prescott HA, Boyle P, Climer, Francis MM. A dominant mutation in a neuronal acetylcholine receptor subunit leads to motor neuron degeneration in Caenorhabditis elegans. J Neurosci. 2010;30:13932–42.
  • Kryukov GV, Pennacchio LA, Sunyaev SR. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet. 2007;80:727–39.
  • Grosskreutz J, van den Bosch L, Keller BU. Calcium dysregulation in amyotrophic lateral sclerosis. Cell Calcium. 2010;47:165–74.
  • Walker AK, Atkin JD. Stress signaling from the endoplasmic reticulum: a central player in the pathogenesis of amyotrophic lateral sclerosis. IUBMB Life. 2011;63: 754–63
  • Lautenschlaeger J, Prell T, Grosskreutz J. Endoplasmic reticulum stress and the ER mitochondrial calcium cycle in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2012;13:166–77.
  • Richards CI, Srinivasan R, Xiao C, Mackey ED, Miwa JM, Lester HA. Trafficking of alpha4 nicotinic receptors revealed by superecliptic phluorin: effects of a beta4 amyotrophic lateral sclerosis-associated mutation and chronic exposure to nicotine. J Biol Chem. 2011;286:31241–9.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.