HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION CAUSED BY MUTATIONS IN THE GTP CYCLOHYDROLASE-I GENE

被引：624

作者：

ICHINOSE, H

OHYE, T

TAKAHASHI, E

SEKI, N

HORI, T

SEGAWA, M

NOMURA, Y

ENDO, K

TANAKA, H

TSUJI, S

FUJITA, K

NAGATSU, T

机构：

[1] FUJITA HLTH UNIV,SCH MED,INST COMPREHENS MED SCI,TOYOAKE,AICHI 47011,JAPAN

[2] NATL INST RADIOL SCI,DIV GENET,CHIBA,JAPAN

[3] KAZUSA DNA RES INST,GENE STRUCT LAB 1,CHIBA 292,JAPAN

[4] SEGAWA NEUROL CLIN CHILDREN,TOKYO 101,JAPAN

[5] NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,NIIGATA 951,JAPAN

来源：

NATURE GENETICS | 1994年 / 8卷 / 03期

关键词：

D O I：

10.1038/ng1194-236

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary progressive dystonia with marked diurnal fluctuation (HPD) (also known as dopa responsive dystonia) is a dystonia with onset in childhood that shows a marked response without any side effects to levodopa. Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1-q22.2. The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzymes activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. This is the first report of a causative gene for the inherited dystonias.

引用

页码：236 / 242

页数：7

共 48 条

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