Spinocerebellar ataxia type 43 (SCA43)

Evidence-based neurology checklist on spinocerebellar ataxia type 43 (sca43): Genetics This is caused by mutations in the MME gene on chromosome 3q MME is also associated with Charcot Marie Tooth disease type 2 (CMT2) The gene encodes neprilysin The transmission is autosomal dominant Clinical…

Genetics

  • This is caused by mutations in the MME gene on chromosome 3q
  • MME is also associated with Charcot Marie Tooth disease type 2 (CMT2)
  • The gene encodes neprilysin
  • The transmission is autosomal dominant

Clinical features

Investigations

References

  1. Depondt C, Donatello S, Rai M, et al. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol Genet 2016; 2:e94.
  2. Higuchi Y, Hashiguchi A, Yuan J, et al. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol 2016; 79:659-672. 
  3. Auer-Grumbach M, Toegel S, Schabhüttl M, et al. Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies. Am J Hum Genet 2016; 99:607-623.
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