DYT24: Dystonia 24

Evidence-based neurology checklist on dyt24: dystonia 24: Genetics This is caused by mutations in the Anoctamin3 (ANO3) gene on chromosome 11 The transmission is autosomal dominant It causes childhood to adult onset dystonia: this is usually in the fourth decade Clinical features Associated…

Genetics

  • This is caused by mutations in the Anoctamin3 (ANO3) gene on chromosome 11
  • The transmission is autosomal dominant
  • It causes childhood to adult onset dystonia: this is usually in the fourth decade

Clinical features

Associated features

Differential diagnosis

References

  1. Blackburn PR, Zimmermann MT, Gass JM, et al. A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. BMC Med Genet 2016; 17:93.
  2. Charlesworth G, Plagnol V, Holmström KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012; 91:1041-1050. 
  3. Dobričić V, Kresojević N, Westenberger A, et al. De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. Mov Disord 2014; 29:1190-1193.
  4. Saunders-Pullman R, Fuchs T, San Luciano M, et al. Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. Mov Disord 2014; 29:812-818.
  5. Stamelou M, Charlesworth G, Cordivari C, et al. The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord 2014; 29:928-934. 

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