DYT16: Autosomal recessive dystonia-parkinsonism

Evidence-based neurology checklist on dyt16: autosomal recessive dystonia-parkinsonism: Genetics This is caused by mutations in the PRKRA gene on chromosome 2 The transmission is autosomal recessive It causes childhood to adolescent onset dystonia Symptoms may be triggered or worsened by fever…

Genetics

  • This is caused by mutations in the PRKRA gene on chromosome 2
  • The transmission is autosomal recessive
  • It causes childhood to adolescent onset dystonia
  • Symptoms may be triggered or worsened by fever

Clinical features

Associated features

Treatment

References

  1. Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  2. Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18.
  3. Ledoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013; 28:968-981.  
  4. Camargos S, Scholz S, Simón-Sánchez J, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008; 7:207-215. 
  5. Zech M, Castrop F, Schormair B, et al. DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family. Mov Disord 2014; 29:1504-1510.
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