title: Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
abstract: Spastic paraplegia is not widely recognized to occur in dopa-responsive dystonia (DRD). The authors found a compound heterozygote for novel mutations of the human tyrosine hydroxylase (TH) gene (TH). The patient was initially diagnosed as having spastic paraplegia, but responded completely to levodopa therapy. Exercise-induced stiffness in the patient's father, who had a TH deletion, also responded to levodopa. The data expand the clinical spectrum of TH deficiency and suggest that TH mutations may account for some patients with DRD simulating spastic paraplegia.
authors.affiliation: Movement Disorders Research Laboratory, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. Yoshiaki_Furukawa@camh.net
authors.forename: Y
authors.initials: Y
authors.lastname: Furukawa
authors.forename: W D
authors.initials: WD
authors.lastname: Graf
authors.forename: H
authors.initials: H
authors.lastname: Wong
authors.forename: M
authors.initials: M
authors.lastname: Shimadzu
authors.forename: S J
authors.initials: SJ
authors.lastname: Kish
mesh_terms: D002648:Child; D004421:Dystonia / Q000188:drug therapy*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010264:Paraplegia / Q000209:etiology* / Q000235:genetics*; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics*
chemical_list: D014446:Tyrosine 3-Monooxygenase