Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
Tyrosine hydroxylase deficiency, a cause of the autosomal recessive form of L-DOPA responsive dystonia, has been associated with a broad spectrum of movement disorders and clinical courses. We describe a new patient presenting with an early onset spastic paraplegia who later developed a progressive generalized dystonic-dyskinetic syndrome. He markedly improved with a very low dosage of L-DOPA/carbidopa, while higher dosages were not tolerated. Two novel mutations (p.G414R/p.L510Q) were detected in the TH gene.
Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy.
T
T
Giovanniello
V
V
Leuzzi
C
C
Carducci
C
C
Carducci
M L Di
ML
Sabato
C
C
Artiola
S
S
Santagata
S
S
Pozzessere
I
I
Antonozzi
D000293:Adolescent; D004252:DNA Mutational Analysis / Q000379:methods; D015259:Dopamine Agents / Q000627:therapeutic use; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D010264:Paraplegia / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism*; D014446:Tyrosine 3-Monooxygenase / Q000172:deficiency* / Q000235:genetics
D015259:Dopamine Agents; D007980:Levodopa; D014446:Tyrosine 3-Monooxygenase