L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency

被引：35

作者：

de Rijk-van Andel, JF

Gabreëls, FJM

Geurtz, B

Steenbergen-Spanjers, GCH

van den Heuvel, LPWJ

Smeitink, JAM

Wevers, RA

机构：

[1] Univ Nijmegen, Med Ctr, Dept Child Neurol, NL-6500 HB Nijmegen, Netherlands

[2] Ignatius Hosp Breda, Dept Neurol, Breda, Netherlands

[3] Univ Nijmegen, Med Ctr, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands

[4] Univ Nijmegen, Med Ctr, Dept Metab Dis, NL-6500 HB Nijmegen, Netherlands

来源：

NEUROLOGY | 2000年 / 55卷 / 12期

关键词：

D O I：

10.1212/WNL.55.12.1926

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 was confirmed biochemically and genetically in four unrelated Dutch patients. The patients have a hypokinetic-rigid parkinsonian syndrome with symptoms in early infancy (3 to 6 months of age). Only sporadic dystonic movements were seen. There was no diurnal fluctuation. All patients showed a rapid favorable response to low-dose L-dopa/carbidopa treatment. Motor performance improved but did not fully normalize. The patients have mild mental retardation.

引用

页码：1926 / 1928

页数：3

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