A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism

Parkinsonism Relat Disord. 2015 Mar;21(3):337-9. doi: 10.1016/j.parkreldis.2015.01.001. Epub 2015 Jan 10.
No abstract available

Keywords: Dystonia; NBIA; PLA2G6; PLAN; Parkinson's disease genetics; Parkinsonism.

Publication types

  • Case Reports
  • Letter
  • Video-Audio Media

MeSH terms

  • Adult
  • Corpus Striatum / pathology
  • DNA Mutational Analysis
  • Dystonia / complications
  • Dystonia / genetics*
  • Family Health
  • Female
  • Group VI Phospholipases A2 / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Mutation / genetics*
  • Parkinson Disease / complications
  • Parkinson Disease / genetics*
  • Substantia Nigra / pathology

Substances

  • Group VI Phospholipases A2
  • PLA2G6 protein, human