FUS variant motor neurone disease (MND)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
FUS variant motor neurone disease (MND). This is caused by fused in sarcoma (FUS) gene mutations. Fully referenced neurology checklist.
Epidemiology
- This is caused by fused in sarcoma (FUS) gene mutations
- Early onset cases are more frequent: these are rapidly progressive
- Late onset cases are slowly progressive
Phenotypes
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Associated features
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References
- Grassano M, Brodini G, De Marco G, et al. Phenotype analysis of fused in sarcoma mutations in amyotrophic lateral sclerosis. Neurol Genet 2022; 8:e200011.
- Naumann M, Peikert K, Günther R, et al. Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis. Ann Clin Transl Neurol 2019; 6:2384-2394.
- Martinelli I, Zucchi E, Pensato V, et al. G507D mutation in FUS gene causes familial amyotrophic lateral sclerosis with a specific genotype-phenotype correlation. Neurobiol Aging 2022; 118:124-128.
- Goldstein O, Inbar T, Kedmi M, et al. FUS-P525L juvenile amyotrophic lateral sclerosis and intellectual disability: evidence for association and oligogenic inheritance. Neurol Genet 2022; 8:e200009.
- Jia Y, Cui B, Liang Y, et al. Focal epilepsy expands the phenotype of FUS-associated amyotrophic lateral sclerosis. Epilepsia 2026; 67:e157-e162.
Related checklists
- C9orf72 variant motor neurone disease (MND): clinical features
- C9orf72 variant motor neurone disease (MND): investigations
- Flail arm syndrome (FAS) variant motor neurone disease (MND)
- Mills variant motor neurone disease (MND):
- Madras motor neuron disease (MMND)
- Motor neurone disease (MND): multisystem proteinopathy
- Paraneoplastic motor neurone disease (MND)
- Motor neurone disease (MND): FEWDON variant
- Motor neurone disease (MND): miscellaneous variants
