DYT12: Rapid onset dystonia-parkinsonism (RDP)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DYT12: Rapid onset dystonia-parkinsonism (RDP). This is caused by mutations in the ATP1A3 (alpha 3 subunit of Na/K ATPase) gene. This is on chromosome 19.

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

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RPD overlap syndromes

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Onset age features

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Clinical features

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Triggers

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Other features

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Acronym

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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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