Article
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
Neuropediatrics - 1 Aug 2007
Giovanniello T, Leuzzi V, Carducci C, Carducci C, Sabato M L Di, Artiola C, Santagata S, Pozzessere S, Antonozzi I
Abstract excerpt
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...
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