Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation

Neurology. 2009 Aug 4;73(5):400-1. doi: 10.1212/WNL.0b013e3181b04acd.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Age of Onset
  • Amino Acid Substitution / genetics
  • Brain / diagnostic imaging
  • Brain / metabolism
  • Brain / physiopathology
  • Child
  • DNA Mutational Analysis
  • Deglutition Disorders / genetics
  • Deglutition Disorders / physiopathology
  • Disease Progression
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / metabolism*
  • Dystonic Disorders / physiopathology
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / physiopathology
  • Mutation
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / metabolism*
  • Parkinsonian Disorders / physiopathology
  • Positron-Emission Tomography
  • Sodium-Potassium-Exchanging ATPase / genetics*

Substances

  • ATP1A3 protein, human
  • Genetic Markers
  • Sodium-Potassium-Exchanging ATPase