DYT23: Dystonia 23

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

DYT23: Dystonia 23. This is caused by mutations in the CACNA1B gene on chromosome 9. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the CACNA1B gene on chromosome 9
  • The transmission is autosomal dominant
  • The gene product is Cip1-interacting zinc finger (CIZ1)
  • It causes late onset dystonia: this is typically in the fourth to fifth decades

Clinical features

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Associated features

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References

  1. Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 2012; 71:458-469. 
  2. Uitti RJ, Maraganore DM. Adult onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord 1993; 8:489-494.
  3. Groen J, van Rootselaar AF, van der Salm SM, Bloem BR, Tijssen M. A new familial syndrome with dystonia and lower limb action myoclonus. Mov Disord 2011; 26:896-900.
  4. Groen JL, Andrade A, Ritz K, et al. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum Mol Genet 2015; 24:987-993. 

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