DYT12: Rapid onset dystonia-parkinsonism (RDP)

Evidence-based neurology checklist on dyt12: rapid onset dystonia-parkinsonism (rdp): Genetics This is caused by mutations in the ATP1A3 (alpha 3 subunit of Na/K ATPase) gene This is on chromosome 19 The transmission is autosomal dominant Other ATP1A3 spectrum disorders RPD overlap syndromes Onset…

Genetics

  • This is caused by mutations in the ATP1A3 (alpha 3 subunit of Na/K ATPase) gene
  • This is on chromosome 19
  • The transmission is autosomal dominant

Other ATP1A3 spectrum disorders

RPD overlap syndromes

Onset age features

Clinical features

Triggers

Other features

Acronym

References

  1. Brashear A, Dobyns WB, de Carvalho Aguiar P, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007; 130:828-835.
  2. Müller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  3. Heinzen EL, Arzimanoglou A, Brashear A, et al. Distinct neurological disorders with ATP1A3 mutations. Lancet Neurol 2014; 13:503-514.
  4. Termsarasab P, Yang AC, Frucht SJ. Intermediate phenotypes of ATP1A3 mutations: phenotype-genotype correlations. Tremor Other Hyperkinet Mov (N Y) 2015; 5:336. 
  5. Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol 2015; 52:56-64. 
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