Tyrosine hydroxylase deficiency presenting with a Biphasic Clinical Course

被引：22

作者：

Giovanniello, T. ^{[2
]}

Leuzzi, V. ^{[1
]}

Carducci, C. ^{[2
]}

Di Sabato, M. L. ^{[1
]}

Artiola, C. ^{[2
]}

Santagata, S. ^{[2
]}

Pozzessere, S. ^{[2
]}

Antonozzi, I. ^{[2
]}

机构：

[1] Univ Roma La Sapienza, Dept Child Neurol & Psychiat, I-00155 Rome, Italy

[2] Univ Roma La Sapienza, Dept Expt Med & Pathol, I-00155 Rome, Italy

来源：

NEUROPEDIATRICS | 2007年 / 38卷 / 04期

关键词：

tyrosine hydroxylase; biogenic amine disorders; spastic paraplegia; dystonic syndrome; L-DOPA/carbidopa;

D O I：

10.1055/s-2007-991151

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：213 / 215

页数：3

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