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

Neurology | Oct 26, 2004

http://www.ncbi.nlm.nih.gov/pubmed/15505183

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 RIS Download

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

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