Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation

Parkinsonism Relat Disord. 2015 Nov;21(11):1378-80. doi: 10.1016/j.parkreldis.2015.09.036. Epub 2015 Sep 25.
No abstract available

Keywords: ATP13A2; Dystonia; Genetics; Kufor-Rakeb; PARK9; Parkinson's disease.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Dystonia / diagnosis
  • Dystonia / genetics*
  • Humans
  • Male
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / genetics*
  • Proton-Translocating ATPases / genetics*
  • Syndrome

Substances

  • ATP13A2 protein, human
  • Proton-Translocating ATPases