Spinocerebellar ataxia type 18 (SCA18)

Evidence-based neurology checklist on spinocerebellar ataxia type 18 (sca18): Genetics This is caused by mutations in the IFRD1 gene on chromosome 7q The transmission is autosomal dominant The onset is in the second to third decades Clinical features Magnetic resonance imaging (MRI) brain Synonym

Genetics

  • This is caused by mutations in the IFRD1 gene on chromosome 7q
  • The transmission is autosomal dominant
  • The onset is in the second to third decades

Clinical features

Magnetic resonance imaging (MRI) brain

Synonym

References

  1. Brkanac Z, Spencer D, Shendure J, et al. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet 2009; 84:692-697. 
  2. Brkanac Z, Fernandez M, Matsushita M, et al. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Am J Med Genet 2002; 114:450-457.
  3. And 0 more. Subscribe to see the full list

Related checklists

Loading...