Motor neurone disease (MND): major genetic risk factors
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Motor neurone disease (MND): major genetic risk factors. This is the copper/zinc superoxide-dismutase-1 (SOD-1) gene mutation.
SOD-1 gene mutations
- This is the copper/zinc superoxide-dismutase-1 (SOD-1) gene mutation
- It is present in 20% of familial cases
- More than 135 mutations have been described
- It is also seen in some sporadic MND cases
- CNTF gene mutations may modify SOD 1 and confer an earlier onset age of MND
C9orf72 gene mutation
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Multisystem proteinopathy gene mutations
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ALS gene mutations
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CHCHD10 gene mutations: associated features
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TBK1 gene mutations
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References
- Chen S, Sayana P, Zhang X, Le W. Genetics of amyotrophic lateral sclerosis: an update. Mol Neurodegener 2013; 8:28.
- Vucic S, Kiernan MC. Pathophysiology of neurodegeneration in familial amyotrophic lateral sclerosis. Curr Mol Med 2009; 9:255-272.
- Orrell RW. Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations. Neuromuscul Disord 2000; 10:63-68.
- Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362:59-62.
- Giess R, Holtmann B, Braga M, et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. Am J Hum Genet 2002; 70:1277-1286.
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