Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
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.
Furukawa
Y
Y
Movement Disorders Research Laboratory, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. Yoshiaki_Furukawa@camh.net
Graf
W D
WD
Wong
H
H
Shimadzu
M
M
Kish
S J
SJ
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*
D014446:Tyrosine 3-Monooxygenase