title: Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
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.
authors.affiliation: Department of Neurology, University Hospital Zürich, Zürich, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Schiller
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: G C H
authors.initials: GC
authors.lastname: Steenbergen
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: H H
authors.initials: HH
authors.lastname: Jung
mesh_terms: D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics*; D002395:Catecholamines / Q000096:biosynthesis / Q000172:deficiency*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D015259:Dopamine Agents / Q000009:adverse effects / Q000627:therapeutic use; D004421:Dystonia / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007980:Levodopa / Q000009:adverse effects / Q000627:therapeutic use*; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D016584:Panic Disorder / Q000139:chemically induced; D017354:Point Mutation / Q000235:genetics*; D035781:Siblings; D013995:Time; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency* / Q000235:genetics
chemical_list: D002395:Catecholamines; D015259:Dopamine Agents; D007980:Levodopa; D014446:Tyrosine 3-Monooxygenase