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Research Article

Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis

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Pages 452-456 | Received 21 Nov 2012, Accepted 03 Jan 2013, Published online: 15 Feb 2013

References

  • Andersen P. Amyotrophic lateral sclerosis genetics with Mendelian inheritance. In: Brown Jr R, Swash M, Pasinelli P, editors. Amyotrophic Lateral Sclerosis. 2nd edn. London: Informa Healthcare; 2006. pp 187–207.
  • Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the Cu/Zn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006;6:37–46.
  • Bradley M, Bradley L, de Belleroche J, Orrell R. Pattern of inheritance in ALS. Neurology. 2005;64:1628–31.
  • Ceroni M, Malaspina A, Poloni TE, Alimonti D, Rognoni F, Habgood J, et al. Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation. Neurology. 1999;53:1064–71.
  • Chiò A, Restagno G, Bruntti M, Ossola I, Calvo A, Canosa A, et al. ALS/FTD phenotype in two Sardinian families carrying both C9orf72 and TARDBP mutations. J Neurol, Neurosurg & Psychiatry. 2012;83:730–3.
  • Cudkowicz M, Qureshi M, Shefner J. Measures and markers in amyotrophic lateral sclerosis. NeuroRx. 2004;1:273–83.
  • Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210–21.
  • DeJesus-Hernandez M, Mackenzie Ian R, Boeve Bradley F, Boxer Adam L, Baker M, Rutherford Nicola J, et al.Expanded GGGGCC Hexanucleotide Repeat in Non-coding Region of C9orf72 Causes Chromosome 9p-Linked FTD and ALS. Neuron. 2011;72:24–56.
  • Desai J, Swash M. Essentials of diagnosis. In: Kuncl WR, editor. Motor neuron disease. London: WB Saunders; 2002. pp 1–21.
  • Gallo JM. Spinobulbar muscular atrophy (Kennedy’s disease). In: Eisen A, editor. Clinical Neurophysiology of Motor Neuron Diseases Hanbook of Clinical Neurophysiology. Amsterdam: Elsevier BV; 2004. pp 209–14.
  • Giess R, Holtmann B, Braga M, Grimm T, Muller-Myhsok B, Toyka KV, et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD1 mutation: potential impact of CNTF as a candidate modifier gene. Am J Hum Genet. 2001;70:1277–86.
  • Gros-Louis F, Gaspar C, Rouleau GA. Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochim Biophys Acta. 2006;1762:956–72.
  • Iwai K, Yamamoto M, Yoshihara T, Sobue G. Anticipation in familial amyotrophic lateral sclerosis with SOD1-G93S mutation. J Neurol Neurosurg Psychiatry. 2002;72:819–20.
  • Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942–55.
  • Li TM, Alberman E, Swash M. Comparison of sporadic and familial disease among 580 cases of motor neuron disease. J Neurol Neurosurg Psychiatry. 1988;51: 778–84.
  • Nicholson GA, Gopinath S, Blair IP. Genes and motor neuron disease. In: Kiernan MC, editor. The Motor Neurone Disease Handbook. Sydney: Australasian Medical Publishing Company Limited; 2007. pp 14–25.
  • Renton Alan E, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, et al. A Hexanucleotide Repeat Expansion in C9orf72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron. 2011;72:257–68.
  • Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
  • Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med. 2001;344:1688–700.
  • Simpson C, Al-Chalabi A. Modifying genes in amyotrophic lateral sclerosis. In: Brown R, Swash M, Pasinelli P, editors. Amyotrophic lateral sclerosis. 2nd edn. London: Informa Helathcare; 2006. pp 209–24.
  • van Blitterswijk M, van Es MA, Hennekam EAM, Dooijes D, van Rheenen W, Medic J, et al. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Human Molecular Genetics. 2012;21:3776–84.
  • Vucic S, Burke D, Kiernan MC. Diagnosis of motor neuron disease. In: Kiernan MC, editor. The Motor Neuron Disease Handbook. Sydney: Australasian Medical Publishing Company Limited; 2007. pp 89–115.
  • Vucic S, Kiernan MC. Pathophysiology of neurodegeneration in familial amyotrophic lateral sclerosis. Curr Mol Med. 2009;9:255–72.
  • Vucic S, Kiernan MC. Up-regulation of persistent sodium conductances in familial ALS. J Neurol Neurosurg Psychiatry. 2010;81:222–7.
  • Vucic S, Nicholson GA, Kiernan MC. Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis. Brain. 2008;131:1540–50.

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