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Brief Report

Multiple system involvement in a Japanese patient with a V31A mutation in the SOD1 gene

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Pages 312-314 | Received 29 Sep 2013, Accepted 03 Dec 2013, Published online: 10 Mar 2014

References

  • Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, et al. Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science. 1993;261: 1047–51.
  • Hirano M, Fujii J, Nagai Y, Sonobe M, Okamoto K, Araki H, et al. A new variant Cu/Zn superoxide dismutase (Val7→Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun. 1994;204:572–7.
  • Naruse H, Iwata A, Takahashi Y, Ichihara K, Kamei S, Yamatoku M, et al. Familial amyotrophic lateral sclerosis with novel A4D SOD1 mutation with late age at onset and rapid progressive course. Neurol Clin Neurosci. 2013;1:45–7.
  • Aoki M, Ogasawara M, Matsubara Y, Narisawa K, Nakamura S, Itoyama Y, et al. Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS. J Neurol Sci. 1994;126:77–83.
  • Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple- system atrophy. N Engl J Med. 2013;369:233–44.
  • Samukawa M, Hirano M, Sakamoto H, Kitada M, Kusunoki S, Nakamura Y. Risks of inappropriate secretion of antidiuretic hormone in multiple system atrophy. Mov Disord. 2011;26:2572–3.
  • Hirano M, Nakamura Y, Saigoh K, Sakamoto H, Ueno S, Isono C, et al. Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis. Neurology. 2013;80:458–63.
  • Dangoumau A, Verschueren A, Hammouche E, Papon MA, Blasco H, Cherpi-Antar C, et al. A novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.Neurobiol Aging. 2014;35:266.e1–4.
  • Jonsson PA, Graffmo KS, Brannstrom T, Nilsson P, Andersen PM, Marklund SL. Motor neuron disease in mice expressing the wild-type-like D90A mutant superoxide dismutase-1. J Neuropathol Exp Neurol. 2006;65:1126–36.
  • Hirano M, Quinzii CM, Mitsumoto H, Hays AP, Roberts JK, Richard P, et al. Senataxin mutations and amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12:223–7.

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