Association between superoxide dismutase 1 mutations and clinical phenotypes in Chinese patients with familial amyotrophic lateral sclerosis

Chinese Journal of Neurology

Volumn 45, Issue 7, 2012, Pages 453-458

  Zhang, Hua Gang ^a   Tang, Lu ^a   Zhang, Nan ^a   Fan, Dong Sheng ^a  

^a PEKING UNIVERSITY THIRD HOSPITAL   (China)

Author keywords

Amyotrophic lateral sclerosis; Copper; Mutation; Phenotype; Superoxide dismutase; Zinc

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SEX RATIO;

EID: 84867420138     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1006-7876.2012.07.002     Document Type: Article

References (35)

1. 2004, 21: 149-152.
2. Zhang H G, Zhao H S, Lu M, et al. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China. Amyotroph Lateral Scler, 2005, 6: 234-238.
3. Fong G C, Kwok K H, Song Y Q, et al. Clinical phenotypes of a large Chinese multigeneration kindred with autosomal dominant familial ALS due to Ile149Thr SOD1 gene mutation. Amyotroph Lateral Scler, 2006, 7: 142-149.
4. Tsai C P, Soong B W, Lin K P, et al. FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. Neurobiol Aging, 2010, 32: 553.e13-21.
5. 2010, 43: 686-691.
6. 2011, 33: 720-724.
7. Ticozzi N, Tiloca1 C, Moreli1 C, et al. Genetics of familial amyotrophic lateral sclerosis. Archives Italiennes de Biologie, 2011, 149: 65-82.
8. Juneja T, Pericak-Vance M A, Laing N G, et al. 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.
9. Saeed M, Yang Y, Deng H X, et al. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology, 2009, 72: 1634-1639.
10. Andersen P M, Forsgren L, Binzer M, et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain, 1996, 119 Pt4: 1153-1172.
11. Aoki M, Ogasawara M, Matsubara 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.
12. Abe K, Aoki M, Ikeda M, et al. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci, 1996, 136: 108-116.
13. Arisato T, Okubo H, Aruta H, et al. Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mutation in large Japanese families. Acta Neuropathol, 2003, 106: 561-568.
14. Mitchell J D, Borasio G D. Amyotrophic lateral sclerosis. Lancet, 2007, 369(9578): 2031-2041.
15. Millecamps S, Salachas F, Cazeneuve C, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis; genotype-phenotype correlations. J Med Genet, 2010, 47: 554-560.
16. Cudkowicz M E, Mckenna-Yasek D, Sapp P E, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol, 1997, 41: 210-221.
17. Andersen P M, Nilsson P, Keranen M L, et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutations in Scandinavia. Brain, 1997, 120: 1723-1737.
18. Orrell R W. Amyotrophic lateral sclerosis; copper/zinc superoxide dismutase (SOD1) gene mutations. Neuromuscul Disord, 2000, 10: 63-68.
19. Battistini S, Giannini F, Greco G, et al. SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study. J Neurol, 2005, 252: 782-788.
20. Brotherton 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: 215-219.
21. Morita M, Aoki M, Abe K, et al. A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. Neurosci Lett, 1996, 205: 79-82.
22. Kohnoa S, Takahashia Y, Miyajim H, et al. A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis. Neurosci Lett, 1999, 276: 135-137.
23. Kawamata H, Manfredi G. Different regulation of wild-type and mutant Cu/Zn superoxide dismutase localization in mammalian mitochondria. Hum Mol Genet, 2008, 17: 3303-3317.
24. Karch C M, Borchelt D R. A limited role for disulfi de crosslinking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis. J Biol Chem, 2008, 283: 13528-13537.
25. Cozzolino M, Amori I, Pesaresi M G, et al. Cysteine 111 affects aggregation and cytotoxicityof mutant Cu/Zn superoxide dismutase associated with familial amyotrophic lateral sclerosis. J Biol Chem, 2008, 283: 866-874.
26. Syriani E, Morales M, Gamez J. The p. E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time. Clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree. J Neurol Sci, 2009, 285: 46-53.
27. Stewart H G, Andersen P M, Eisen A, et al. Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations. Clin Neurophysiol, 2006, 117; 1850-1861.
28. Ceroni M, Malaspina A, Poloni T E, et al. Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation. Neurology, 1999, 53: 1064-1071.
29. Regal L, Vanopdenbosch L, Tilkin P, et al. The G93C mutation in superoxide dismutase 1, clinicopathologic phenotype and prognosis. Arch Neurol, 2006, 63: 262-267.
30. Baumann F, Rose S E, Nicholson G A, et al. Biomarkers of disease in a case of familial lower motor neuron ALS. Amyotroph Lateral Scler, 2010, 11: 486-489.
31. Restagno G, Lombardo F, Sbaiz L, et al. The rare G93D mutation causes a slowly progressing lower motor neuron disease. Amyotrophic Lateral Sclerosis, 2008, 9: 35-39.
32. Luigetti M, Madia F, Conte A, et al. SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis, 2009, 10: 479-482.
33. Stathopulos P B, Rumfeldt J A O, Karbassi F, et al. Calorimetric analysis of thermodynamic stability and aggregation for apo and holo ALS associated Gly93 mutants of superoxide dismutase. J Biol Chem, 2006, 281: 6184-6193.
34. Luigetti M, Lattante S, Zollino M, et al. SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant. Neurobiol Aging, 2011, 32: 1924.e15-18.
35. Giess R, Holtmann B, Grimm T, 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, 2002, 70: 1277-1286.