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Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

The authors report the long-term course of two siblings with L-dopa responsive dystonia (DRD) associated with a compound heterozygous mutation in the tyrosine hydroxylase (TH) gene. Both siblings manifested with lower-limb onset generalized DRD and had a sustained response to low-dose L-dopa therapy for over 35 years. Although the l-dopa therapy was delayed up to 20 years after disease onset, there were no cognitive or neurologic sequelae of the long-term catecholamine deficit.

Pubmed ID: 15505183


  • Schiller A
  • Wevers RA
  • Steenbergen GC
  • Blau N
  • Jung HH



Publication Data

October 26, 2004

Associated Grants


Mesh Terms

  • Adult
  • Age of Onset
  • Brain
  • Brain Chemistry
  • Catecholamines
  • DNA Mutational Analysis
  • Disease Progression
  • Dopamine Agents
  • Dystonia
  • Heterozygote
  • Humans
  • Levodopa
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Panic Disorder
  • Point Mutation
  • Siblings
  • Time
  • Tyrosine 3-Monooxygenase