Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

Parkinsonism Relat Disord. 2011 Feb;17(2):135-8. doi: 10.1016/j.parkreldis.2010.10.011. Epub 2010 Nov 20.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Dementia / complications
  • Dementia / diagnosis
  • Dementia / genetics*
  • Dystonia / complications
  • Dystonia / diagnosis
  • Dystonia / genetics*
  • Frameshift Mutation / genetics*
  • Humans
  • Male
  • Parkinsonian Disorders / complications
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / genetics*
  • Pedigree
  • Proton-Translocating ATPases / genetics*
  • Video Recording

Substances

  • ATP13A2 protein, human
  • Proton-Translocating ATPases