H46R SOD1 mutation is consistently associated with a relatively benign form of amyotrophic lateral sclerosis with slow progression

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 17, Issue 7-8, 2016, Pages 610-613

  Zou, Zhang Yu ^a,b   Liu, Ming Sheng ^b   Li, Xiao Guang ^b   Cui, Li Ying ^b  

^a FUJIAN MEDICAL UNIVERSITY   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Amyotrophic lateral sclerosis; H46R; SOD1 mutation

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BABINSKI REFLEX; CASE REPORT; DISEASE COURSE; DNA SEQUENCE; ELECTROMYOGRAPHY; FEMALE; GENE; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; LIMB WEAKNESS; MALE; MIDDLE AGED; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SOD1 GENE; SURVIVAL; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; PATHOPHYSIOLOGY; SEVERITY OF ILLNESS INDEX;

ARGININE; COPPER ZINC SUPEROXIDE DISMUTASE; HISTIDINE; SOD1 PROTEIN, HUMAN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARGININE; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; HISTIDINE; HUMANS; MALE; MIDDLE AGED; MUTATION; SEVERITY OF ILLNESS INDEX; SUPEROXIDE DISMUTASE-1;

EID: 84976310092     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.1080/21678421.2016.1199698     Document Type: Article

References (18)

1. Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377:942–55.
2. Zou ZY, Liu MS, Li XG, Cui LY., The distinctive genetic architecture of ALS in mainland China. J Neurol Neurosurg Psychiatry. 2015
3. 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.
4. Abe K, Aoki M, Ikeda M, Watanabe M, Hirai S, Itoyama Y., Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci. 1996;136:108–16.
5. Arisato T, Okubo R, Arata H, Abe K, Fukada K, Sakoda S, et al. Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mutation in large Japanese families. Acta Neuropathol. 2003;106:561–8.
6. Ohi T, Nabeshima K, Kato S, Yazawa S, Takechi S., Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions. J Neurol Sci. 2004;225:19–25.
7. Ohi T, Saita K, Takechi S, Nabesima K, Tashiro H, Shiomi K, et al. Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase. J Neurol Sci. 2002;197:73–8.
8. Yamashita S, Kimura E, Yamamoto F, Migita A, Kanda E, Mita S, et al. Flexor-dominant myopathic phenotype in patients with His46Arg substitution in the Cu/Zn superoxide dismutase gene. J Neurol Sci. 2009;281:6–10.
9. Holmoy T, Bjorgo K, Roos PM., Slowly progressing amyotrophic lateral sclerosis caused by H46R SOD1 mutation. Eur Neurol. 2007;58:57–8.
10. Li X, Zhang L, Xie M, Liu M, Li B, Zhao H, et al. Screening of mutations in superoxide dismutate 1 gene in Chinese with familial amyotrophic lateral sclerosis. Zhonghua Shen Jing Ke Za Zhi. 2010;43:686–91.
11. Zhang H, Tang L, Zhang N, Fan D., Association between superoxide dismutase 1 mutations and clinical phenotypes in Chinese patients with familial amyotrophic lateral sclerosis. Zhonghua Shen Jing Ke Za Zhi. 2012;45:453–8.
12. 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;48:55–7.
13. Camu W, Khoris J, Moulard B, Salachas F, Briolotti V, Rouleau GA, et al. Genetics of familial ALS and consequences for diagnosis. French ALS Research Group. J Neurol Sci. 1999;165 S21–6.
14. Niemann S, Joos H, Meyer T, Vielhaber S, Reuner U, Gleichmann M, et al. Familial ALS in Germany:origin of the R115G SOD1 mutation by a founder effect. J Neurol Neurosurg Psychiatry. 2004;75:1186–8.
15. Rabe M, Felbecker A, Waibel S, Steinbach P, Winter P, Muller U, et al. The epidemiology of Cu/Zn-SOD mutations in Germany:a study of 217 families. J Neurol. 2010;257:1298–302.
16. Ostern R, Fagerheim T, Orstavik K, Holmoy T, Heiberg A, Lund-Petersen I, et al. Hereditary motor neuron disease in a large Norwegian family with a 'H46R' substitution in the superoxide dismutase 1 gene. Neuromuscul Disord. 2012;22:511–21.
17. Holmoy T, Braaten O, Hovden IA, Tallaksen CM., A young woman with a weakening leg. Tidsskrift for den Norske laegeforening:tidsskrift for praktisk medicin, ny raekke. 2011;131:583–6.
18. Hoyer H, Braathen GJ, Busk OL, Holla OL, Svendsen M, Hilmarsen HT, et al. Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. BioMed Res Int. 2014;2014:210401.