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SOD1 Mutations: More to Learn

Published online by Cambridge University Press:  02 December 2014

Véronique V. Belzil
CHUM Research Center, Université de Montréal, Montréal, Quebec, Canada
Guy A. Rouleau
CHUM Research Center, Université de Montréal, Montréal, Quebec, Canada
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Copyright © The Canadian Journal of Neurological 2012


1Baek, W, Koh, S-H, Kim, YS, et al.A novel exon 3 mutation (P66S) in the SOD1 gene in familial ALS. Can J Neurol Sci. 2012;39 2: 2456.CrossRefGoogle ScholarPubMed
2Camu, W, Khoris, J, Moulard, B, et al.Genetics of familial ALS and consequences for diagnosis. French ALS Research Group. J Neurol Sci. 1999;165 Suppl 1:S216.CrossRefGoogle ScholarPubMed
3Siddique, T, Pericak-Vance, MA, Brooks, BR, et al.Linkage analysis in familial amyotrophic lateral sclerosis. Neurology. 1989;39: 91925.CrossRefGoogle ScholarPubMed
4Siddique, T, Figlewicz, DA, Pericak-Vance, MA, et al.Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med. 1991;324:13814.CrossRefGoogle ScholarPubMed
5Rosen, DR, Siddique, T, Patterson, D, et al.Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:5962.CrossRefGoogle ScholarPubMed
6Andersen, PM, Sims, KB, Xin, WW, et al.Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003;4: 6273.CrossRefGoogle ScholarPubMed
7Valdmanis, PN, Belzil, VV, Lee, J, et al.A mutation that creates a pseudoexon in SOD1 causes familial ALS. Ann Hum Genet. 2009;73:6527.CrossRefGoogle ScholarPubMed
8Zinman, L, Liu, HN, Sato, C, et al.A mechanism for low penetrance in an ALS family with a novel SOD1 deletion. Neurology. 2009; 72:11539.CrossRefGoogle Scholar
9Birve, A, Neuwirth, C, Weber, M, et al.A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis. Hum Mol Genet. 2010;19:42016.CrossRefGoogle ScholarPubMed
10Andersen, PM.Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006;6:3746.CrossRefGoogle ScholarPubMed
11Hand, CK, Mayeux-Portas, V, Khoris, J, et al.Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol. 2001;49: 26771.3.0.CO;2-D>CrossRefGoogle Scholar
12Yasser, S, Fecto, F, Siddique, T, Sheikh, KA, Athar, P.An unusual case of familial ALS and cerebellar ataxia. Amyotroph Lateral Scler. 2010;11:56870.CrossRefGoogle ScholarPubMed
13Battistini, S, Giannini, F, Greco, G, et al.SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study. J Neurol. 2005;252:7828.CrossRefGoogle ScholarPubMed
14Mase, G, Ros, S, Gemma, A, et al.ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene. J Neurol Sci. 2001;191:1118.CrossRefGoogle Scholar
15Baltadzhieva, R, Gurevich, T, Korczyn, AD.Autonomic impairment in amyotrophic lateral sclerosis. Curr Opin Neurol. 2005;18: 48793.CrossRefGoogle ScholarPubMed
16Del Grande, A, Conte, A, Lattante, S, et al.D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation. J Neurol Sci. 2011;309:313.CrossRefGoogle ScholarPubMed
17Juneja, 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;48:557.CrossRefGoogle ScholarPubMed
18Cudkowicz, ME, McKenna-Yasek, D, Sapp, PE, et al.Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:21021.CrossRefGoogle ScholarPubMed
19Andersen, PM, Nilsson, P, Keranen, ML, et al.Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain. 1997;120 (Pt 10):172337.CrossRefGoogle ScholarPubMed
20Brotherton, T, Polak, M, Kelly, C, et al.A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling. Amyotroph Lateral Scler. 2011;12:21519.CrossRefGoogle ScholarPubMed
21Andersen, PM, Nilsson, P, Ala-Hurula, V, et al.Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet. 1995;10: 616.CrossRefGoogle ScholarPubMed
22Prudencio, M, Hart, PJ, Borchelt, DR, Andersen, PM.Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. Hum Mol Genet. 2009;18: 321726.CrossRefGoogle ScholarPubMed
23Eisen, A, Mezei, MM, Stewart, HG, Fabros, M, Gibson, G, Andersen, PM.SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management. Amyotroph Lateral Scler. 2008; 9:10819.CrossRefGoogle ScholarPubMed
24Reaume, AG, Elliott, JL, Hoffman, EK, et al.Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat Genet. 1996; 13:437.CrossRefGoogle ScholarPubMed
25Gurney, ME, Pu, H, Chiu, AY, et al.Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science. 1994;264:17725.CrossRefGoogle ScholarPubMed
26Rothstein, JD.Current hypotheses for the underlying biology of amyotrophic lateral sclerosis. Ann Neurol. 2009;65 Suppl 1: S39.CrossRefGoogle ScholarPubMed
27Cleveland, DW, Rothstein, JD.From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS. Nat Rev Neurosci. 2001;2:80619.CrossRefGoogle Scholar
28Li, X, Lu, L, Bush, DJ, et al.Mutant copper-zinc superoxide dismutase associated with amyotrophic lateral sclerosis binds to adenine/uridine-rich stability elements in the vascular endothelial growth factor 3’-untranslated region. J Neurochem. 2009;108:103244.CrossRefGoogle ScholarPubMed
29Ezzi, SA, Urushitani, M, Julien, JP.Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation. J Neurochem. 2007;102:1708.CrossRefGoogle ScholarPubMed
30Segovia-Silvestre, T, Andreu, AL, Vives-Bauza, C, Garcia-Arumi, E, Cervera, C, Gamez, J.A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002;3:6974.CrossRefGoogle ScholarPubMed

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