Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the SOD1 gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the SOD1 gene results in an amino acid substitution of lysine for asparagine at position 86 (N86K) of the SOD1 protein. The family history suggested that this autosomal dominantly inherited mutation may be associated with rapidly progressive disease. Muscle Nerve, 2007

REFERENCES

1 Agar J, Durham H. Relevance of oxidative injury in the pathogenesis of motor neuron diseases. Amyotroph Lateral Scler Other Motor Neuron Disord 2003; 4: 232–242.
10.1080/14660820310011278
CAS PubMed Web of Science® Google Scholar
2 Aoki M, Abe K, Houi K, Ogasawara M, Matsubara Y, Kobayashi T, et al. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. Ann Neurol 1995; 37: 676–679.
10.1002/ana.410370518
CAS PubMed Web of Science® Google Scholar
3 Aoki M, Abe K, Itoyama Y. Molecular analysis of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan. Cell Mol Neurobiol 1998; 18: 639–647.
10.1023/A:1020217818245
CAS PubMed Web of Science® Google Scholar
4 Boillee S, Yamanaka K, Lobsiger CS, Copeland NG, Jenkins NA, Kassiotis G, et al. Onset and progression in inherited ALS determined by motoneurons and microglia. Science 2006; 312: 1389–1392.
10.1126/science.1123511
CAS PubMed Web of Science® Google Scholar
5 Bruijn LI, Miller TM, Cleveland DW. Unraveling the mechanisms involved in motor neuron degeneration in ALS. Annu Rev Neurosci 2004; 27: 723–749.
10.1146/annurev.neuro.27.070203.144244
CAS PubMed Web of Science® Google Scholar
6 Hayward C, Brock DJ, Minns RA, Swingler RJ. Homozygosity for Asn86Ser mutation in the CuZn–superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis. J Med Genet 1998; 35: 174.
10.1136/jmg.35.2.174
CAS PubMed Web of Science® Google Scholar
7 Hensley K, Floyd RA, Gordon B, Mou S, Pye QN, Stewart C, et al. Temporal patterns of cytokine and apoptosis-related gene expression in spinal cords of the G93A-SOD1 mouse model of amyotrophic lateral sclerosis. J Neurochem 2002; 82: 365–374.
10.1046/j.1471-4159.2002.00968.x
CAS PubMed Web of Science® Google Scholar
8 Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase. Neurology 1997; 48: 55–57.
10.1212/WNL.48.1.55
CAS PubMed Web of Science® Google Scholar
9 Magnus T, Beck M, Giess R, Puls I, Naumann M, Toyka KV. Disease progression in amyotrophic lateral sclerosis: predictors of survival. Muscle Nerve 2002; 25: 709–714.
10.1002/mus.10090
CAS PubMed Web of Science® Google Scholar
10 Miyazaki K, Fujita T, Ozaki T, Kato C, Kurose Y, Sakamoto M, et al. NEDL1, a novel ubiqutin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1. J Biol Chem 2004; 279: 11327–11335.
10.1074/jbc.M312389200
CAS PubMed Web of Science® Google Scholar
11 Mochizuki Y, Mizutani T, Nakano R, Fukushima T, Honma T, Nemoto N, et al. Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with an H43R mutation in Cu/Zn superoxide dismutase. Rinsho Shinkeigaku 2003; 43: 491–495.
PubMed Google Scholar
12 Shaw PJ. Molecular and cellular pathways of neurodegeneration in motor neuron disease. J Neurol Neurosurg Psychiatry 2005; 76: 1046–1057.
10.1136/jnnp.2004.048652
CAS PubMed Web of Science® Google Scholar
13 Stieber A, Gonatas JO, Moore JS, Bantly A, Yim HS, Yim MB, et al. Disruption of the structure of the Golgi apparatus and function of the secretory pathway by mutants G93A and G85R of Cu,Zn superoxide dismutase (SOD1) of familial amyotrophic lateral sclerosis. J Neurol Sci 2004; 219: 45–53.
10.1016/j.jns.2003.12.004
CAS PubMed Web of Science® Google Scholar
14 Valentine JS, Hart PJ. Misfolded CuZnSOD and amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 2003; 100: 3617–3622.
10.1073/pnas.0730423100
CAS PubMed Web of Science® Google Scholar
15 Valentine JS, Doucette PA, Potter SZ. Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis. Annu Rev Biochem 2005; 74: 563–593.
10.1146/annurev.biochem.72.121801.161647
CAS PubMed Web of Science® Google Scholar

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Volume36, Issue1

July 2007

Pages 111-114

Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS

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Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS

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