期刊
NEUROPEDIATRICS
卷 38, 期 4, 页码 213-215出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-2007-991151
关键词
tyrosine hydroxylase; biogenic amine disorders; spastic paraplegia; dystonic syndrome; L-DOPA/carbidopa
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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