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.
Tyrosine hydroxylase deficiency presenting with a Biphasic Clinical Course / T., Giovanniello; Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; M. L., Sabato; C., Artiola; S., Santagata; Pozzessere, Simone; Antonozzi, Italo. - In: NEUROPEDIATRICS. - ISSN 0174-304X. - STAMPA. - 38:4(2007), pp. 213-215. [10.1055/s-2007-991151]
Tyrosine hydroxylase deficiency presenting with a Biphasic Clinical Course
LEUZZI, Vincenzo;CARDUCCI, Claudia;CARDUCCI, Carla;POZZESSERE, SIMONE;ANTONOZZI, Italo
2007
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
