Spinocerebellar ataxia type 18 (SCA18)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia type 18 (SCA18). This is caused by mutations in the IFRD1 gene on chromosome 7q. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain

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Synonym

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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.

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