A novel SOD1 gene mutation in familial ALS with low penetrance in females - PubMed (original) (raw)
Case Reports
A novel SOD1 gene mutation in familial ALS with low penetrance in females
T Murakami et al. J Neurol Sci. 2001.
Abstract
We identified a novel missense mutation in the Cu/Zn superoxide dismutase gene in a family with amyotrophic lateral sclerosis (ALS). The mutation was a transition of T to C, resulting in a substitution of leucine 126 to serine in exon 5. The family had very unique clinical features of extremely mild severity only in the legs of two male patients with onset of 42 and 52 years old, and their mothers did not develop any symptom even after reaching the age of 80 and carrying the same mutation. The present study suggests that there are other factors that delay or prevent the disease.
Similar articles
- Sporadic motor neuron disease in a familial novel SOD1 mutation: incomplete penetrance or chance association?
Conforti FL, Barone R, Fermo SL, Giliberto C, Patti F, Gambardella A, Quattrone A, Zappia M. Conforti FL, et al. Amyotroph Lateral Scler. 2011 May;12(3):220-2. doi: 10.3109/17482968.2010.545951. Amyotroph Lateral Scler. 2011. PMID: 21545237 - A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis.
Kim NH, Kim HJ, Kim M, Lee KW. Kim NH, et al. J Neurol Sci. 2003 Jan 15;206(1):65-9. doi: 10.1016/s0022-510x(02)00338-6. J Neurol Sci. 2003. PMID: 12480087 - Identification of a novel missense (C7W) mutation of SOD1 in a large familial amyotrophic lateral sclerosis pedigree.
Wang Z, Cai W, Cui F, Cai T, Chen Z, Mao F, Teng H, Chen L, Wang J, Sun Z, Huang X, Yu P. Wang Z, et al. Neurobiol Aging. 2014 Mar;35(3):725.e11-5. doi: 10.1016/j.neurobiolaging.2013.08.024. Epub 2013 Oct 1. Neurobiol Aging. 2014. PMID: 24094577 - A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China.
Zhang H, Zhao H, Lu M, Zhang Y, Wang L, Zhang J, Ma D, Fan D. Zhang H, et al. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Dec;6(4):234-8. doi: 10.1080/14660820510044478. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005. PMID: 16319027 - Genetic factors in the early diagnosis of ALS.
Andersen PM. Andersen PM. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Mar;1 Suppl 1:S31-42. doi: 10.1080/14660820052415899. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000. PMID: 11464924 Review.
Cited by
- Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M, Liu YU, Yao X, Qin D, Su H. Huang M, et al. Transl Neurodegener. 2024 May 29;13(1):28. doi: 10.1186/s40035-024-00416-x. Transl Neurodegener. 2024. PMID: 38811997 Free PMC article. Review. - A Systematic Review of Genotype-Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS.
Connolly O, Le Gall L, McCluskey G, Donaghy CG, Duddy WJ, Duguez S. Connolly O, et al. J Pers Med. 2020 Jun 29;10(3):58. doi: 10.3390/jpm10030058. J Pers Med. 2020. PMID: 32610599 Free PMC article. Review. - Axonal Degeneration during Aging and Its Functional Role in Neurodegenerative Disorders.
Salvadores N, Sanhueza M, Manque P, Court FA. Salvadores N, et al. Front Neurosci. 2017 Sep 4;11:451. doi: 10.3389/fnins.2017.00451. eCollection 2017. Front Neurosci. 2017. PMID: 28928628 Free PMC article. Review. - Familial clustering of ALS in a population-based resource.
Gibson SB, Figueroa KP, Bromberg MB, Pulst SM, Cannon-Albright L. Gibson SB, et al. Neurology. 2014 Jan 7;82(1):17-22. doi: 10.1212/01.wnl.0000438219.39061.da. Epub 2013 Dec 4. Neurology. 2014. PMID: 24306004 Free PMC article. - Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.
Wang Q, Johnson JL, Agar NY, Agar JN. Wang Q, et al. PLoS Biol. 2008 Jul 29;6(7):e170. doi: 10.1371/journal.pbio.0060170. PLoS Biol. 2008. PMID: 18666828 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
Miscellaneous