188
Views
6
CrossRef citations to date
0
Altmetric
SHORT REPORT

Sporadic motor neuron disease in a familial novel SOD1 mutation: Incomplete penetrance or chance association?

, , , , , , & show all
Pages 220-222 | Received 21 Sep 2010, Accepted 03 Dec 2010, Published online: 05 May 2011

References

  • Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the Cu/Zn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006;6:37–46.
  • Rits IA. Declaration of Helsinki. Recommendations guiding doctors in clinical research. World Med J. 1964;11:281.
  • Andersen PM, Nilsson P, Keränen ML, Forsgren L, Hägglund J, Karlsborg M, . Phenotypic heterogeneity in motor neuron disease patients with Cu/Zn superoxide dismutase mutations in Scandinavia. Brain. 1997;120:1723–5.
  • Stewart HG, Mackenzie IR, Eisen A, Brännström T, Marklund SL, Andersen PM. Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy. Muscle Nerve. 2006;33:701–6.
  • Takazawa T, Ikeda K, Hirayama T, Kawabe K, Nakamura Y, Ito H, . Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase-1 gene: clinical features of lower motor neuron disease. Intern Med. 2010;49:183–6.
  • Ikeda K, Iwasaki Y, Mitsumoto H, Kim WK, Liu X, Sandner M, . Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology. 2010;74:1926.
  • Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, . Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet. 2010;42:969–72.
  • Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, . Genetic variation in an individual human exome. PLoS One. 2009;4:8232.
  • Logroscino G, Beghi E, Zoccolella S, Palagano R, Fraddosio A, Simone IL, . Incidence of amyotrophic lateral sclerosis in southern Italy: a population based study. J Neurol Neurosurg Psychiatry. 2005;76:1094–8.
  • Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, . Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? J Neurol Neurosurg Psychiatry. 2010;81:572–7.

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.