DYT23: Dystonia 23

Evidence-based neurology checklist on dyt23: dystonia 23: 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…

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

Associated features

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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