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Tyrosine hydroxylase deficiency presenting with a biphasic clinical course
T Giovanniello1, V Leuzzi, C Carducci
1Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy.
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.
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