DYT6: Adult onset mixed torsion dystonia

Evidence-based neurology checklist on dyt6: adult onset mixed torsion dystonia: Genetics This is caused by mutations in the THAP1 gene on chromosome 8 The transmission is autosomal dominant It is frequent in the Amish-Mennonites The onset is in childhood or adolescence Clinical phenotypes…

Genetics

  • This is caused by mutations in the THAP1 gene on chromosome 8
  • The transmission is autosomal dominant
  • It is frequent in the Amish-Mennonites
  • The onset is in childhood or adolescence

Clinical phenotypes

Treatment

Synonym

References

  1. Dauer W. Inherited isolated dystonia: clinical genetics and gene function. Neurotherapeutics 2014; 11:807-816. 
  2. Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009; 8:441-446. 
  3. Houlden H, Schneider SA, Paudel R, et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010; 74:846-850.
  4. Tanabe LM, Kim CE, Alagem N, Dauer WT. Primary dystonia: molecules and mechanisms. Nat Rev Neurol 2009; 5:598-609.
  5. Bhattacharjee S, Silverdale MA, Bonello M, Evans J, Kobylecki C. Generalized dystonia due to a pathogenic THAP1 variant showing sustained response to globus pallidus deep brain stimulation. Tremor Other Hyperkinet Mov (N Y) 2023; 13:23.
  6. And 1 more. Subscribe to see the full list

Related checklists

Loading...