A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations

Mov Disord. 2017 Nov;32(11):1646-1647. doi: 10.1002/mds.27175. Epub 2017 Sep 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / diagnostic imaging
  • Child, Preschool
  • Chorea* / complications
  • Chorea* / diagnostic imaging
  • Chorea* / genetics
  • Chronobiology Disorders* / diagnostic imaging
  • Chronobiology Disorders* / etiology
  • Chronobiology Disorders* / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Phosphoric Diester Hydrolases / genetics*

Substances

  • PDE10A protein, human
  • Phosphoric Diester Hydrolases