Motor neurone disease (MND): major genetic risk factors

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

Multisystem proteinopathy gene mutations

ALS gene mutations

CHCHD10 gene mutations: associated features

TBK1 gene mutations

References

1. Chen S, Sayana P, Zhang X, Le W. Genetics of amyotrophic lateral sclerosis: an update. Mol Neurodegener 2013; 8:28.
2. Vucic S, Kiernan MC. Pathophysiology of neurodegeneration in familial amyotrophic lateral sclerosis. Curr Mol Med 2009; 9:255-272.
3. Orrell RW. Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations. Neuromuscul Disord 2000; 10:63-68.
4. 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.
5. 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.
6. And 20 more. Subscribe to see the full list

Related checklists

• Motor neurone disease (MND): other genetic risk factors
• Motor neurone disease (MND): non-genetic risk factors
• Motor neurone disease (MND): protective factors