Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
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Giovanniello T, Leuzzi V, Carducci C, Carducci C, Sabato ML, Artiola C, Santagata S, Pozzessere S, Antonozzi I
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
Neuropediatrics. 2007 Aug;38(4):213-5.
- PubMed ID
- 18058633 [ View in PubMed]
- 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.