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Amyotrophic Lateral Sclerosis Volume 12, 2011 - Issue 3
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Research Article

Senataxin mutations and amyotrophic lateral sclerosis

Michio Hirano Department of Neurology, Columbia University Medical Center, New YorkCorrespondence[email protected]
,
Catarina M. Quinzii Department of Neurology, Columbia University Medical Center, New York
,
Hiroshi Mitsumoto Department of Neurology, Columbia University Medical Center, New York
,
Arthur P. Hays Department of Pathology and Cell Biology, Columbia University Medical Center, New York
,
J. Kirk Roberts Department of Neurology, Columbia University Medical Center, New York
,
Patricia Richard Department of Biology, Columbia University, New York, USA
&
Lewis P. Rowland Department of Neurology, Columbia University Medical Center, New York
 show all
Pages 223-227 | Received 09 Aug 2010, Accepted 04 Dec 2010, Published online: 29 Dec 2010

References

  • Traub R, Mitsumoto H, Rowland LP. Research Advances in Amyotrophic Lateral Sclerosis, 2009 to 2010. Curr Neurol Neurosci Rep. 2011. (In press.)
  • Pasinelli P, Brown RH. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci. 2006;7:710–23.
  • Dion PA, Daoud H, Rouleau GA. Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet. 2009;10:769–82.
  • Beleza-Meireles A, Al-Chalabi A. Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives. Amyotroph Lateral Scler. 2009;10:1–14.
  • Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, . Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2010. (In press.)
  • Ben Hamida M, Hentati F, Ben Hamida C. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain. 1990;113:347–63.
  • Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, . Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med. 1991;324: 1381–4.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, . Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
  • Donkervoort S, Siddique T. Amyotrophic Lateral Sclerosis. Overview. GeneReviews [Internet] 2009 Jul 28 [cited 2010 Nov 6]; available from: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=als-overview
  • Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, . Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet. 1998;62:633–40.
  • Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, . DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004;74:1128–35.
  • Zhao ZH, Chen WZ, Wu ZY, Wang N, Zhao GX, Chen WJ, . A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10:118–22.
  • Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, . Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet. 2004;36:225–7.
  • Le Ber I, Moreira MC, Rivaud-Pechoux S, Chamayou C, Ochsner F, Kuntzer T, . Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain. 2003;126:2761–72.
  • Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, . Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain. 2009;132:2688–98.
  • Arning L, Schols L, Cin H, Souquet M, Epplen JT, Timmann D. Identification and characterization of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). Neurogenetics. 2008;9:295–9.
  • Bassuk AG, Chen YZ, Batish SD, Nagan N, Opal P, Chance PF, . In cis autosomal dominant mutation of senataxin associated with tremor/ataxia syndrome. Neurogenetics. 2007;8:45–9.
  • Criscuolo C, Chessa L, di Giandomenico S, Mancini P, Sacca F, Grieco GS, . Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology. 2006;66:1207–10.
  • Dierick I, Baets J, Irobi J, Jacobs A, de Vriendt E, Deconinck T, . Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain. 2008;131:1217–27.
  • Haack T, Friday D, Bender A, Rolfs A, Klopstock T. Ataxia oculomotor apraxia type 2: course over 27 years and a novel stop mutation in the senataxin gene. J Neurol. 2009;256:1555–7.
  • Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, . Senataxin, the yeast Sen1p ortholog: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease. Neurobiol Dis. 2006;23:97–108.
  • Myrianthopoulos NC, Lane MH, Silberberg DH, Vincent BL. Nerve conduction and other studies in families with Charcot-Marie-Tooth disease. Brain. 1964;87:589–608.
  • Rabin BA, Griffin JW, Crain BJ, Scavina M, Chance PF, Cornblath DR. Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain. 1999;122:1539–50.
  • Kolb SJ, Sutton S, Schoenberg DR. RNA processing defects associated with diseases of the motor neuron. Muscle Nerve. 2010;41:5–17.
  • Strong MJ. The basic aspects of therapeutics in amyotrophic lateral sclerosis. Pharmacol Ther. 2003;98:379–414.
  • Richard P, Manley JL. Effect of ALS4 associated mutations of SETX on human transcriptome. (In preparation.)

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