Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 15505183.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
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.
Medical subject headings
- Brain Chemistry
- Catecholamines
- Dystonia
- Levodopa
- Point Mutation
- Tyrosine 3-Monooxygenase