FUS variant motor neurone disease (MND)

Evidence-based neurology checklist on fus variant motor neurone disease (mnd): 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

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

References

  1. 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.
  2. 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.
  3. 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.
  4. 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.

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