Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease

Hiroshi Ichinose; Hidehito Inagaki; Takahiro Suzuki; Tamae Ohye; Toshiharu Nagatsu

doi:10.1016/s0387-7604(00)00136-4

Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease

Hiroshi Ichinose
, Hidehito Inagaki
, Takahiro Suzuki
, Tamae Ohye
, Toshiharu Nagatsu

Research output: Contribution to journal › Article › peer-review

29 Citations (Scopus)

Abstract

The causative gene for hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) was discovered in 1994 to be guanosine triphosphate (GTP) cyclohydrolase I, an enzyme involved in tetrahydrobiopterin biosynthesis. To the present, more than 50 mutations have been found in this gene in HPD/DRD patients. Although it is clear that HPD/DRD is caused by partial deficiency of tetrahydrobiopterin in the brain, several important issues regarding the molecular etiology of HPD/DRD remain to be addressed. We review herein the recent progress in the molecular genetics of HPD/DRD and clarify the points to be answered. Copyright (C) 2000 Elsevier Science B.V.

Original language	English
Pages (from-to)	107-110
Number of pages	4
Journal	Brain and Development
Volume	22
Issue number	SUPPL. 1
DOIs	https://doi.org/10.1016/s0387-7604(00)00136-4
Publication status	Published - 09-2000
Externally published	Yes

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Clinical Neurology

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10.1016/s0387-7604(00)00136-4

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title = "Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease",

abstract = "The causative gene for hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) was discovered in 1994 to be guanosine triphosphate (GTP) cyclohydrolase I, an enzyme involved in tetrahydrobiopterin biosynthesis. To the present, more than 50 mutations have been found in this gene in HPD/DRD patients. Although it is clear that HPD/DRD is caused by partial deficiency of tetrahydrobiopterin in the brain, several important issues regarding the molecular etiology of HPD/DRD remain to be addressed. We review herein the recent progress in the molecular genetics of HPD/DRD and clarify the points to be answered. Copyright (C) 2000 Elsevier Science B.V.",

keywords = "Basal ganglia, Guanosine triphosphate cyclohydrolase I, Tyrosine hydroxylase, Dopamine, Tetrahydrobiopterin",

author = "Hiroshi Ichinose and Hidehito Inagaki and Takahiro Suzuki and Tamae Ohye and Toshiharu Nagatsu",

note = "Funding Information: This work was supported by grants-in-aid from the Ministry of Health and Welfare and from Ministry of Education, Science, Sports and Culture of Japan.",

year = "2000",

month = sep,

doi = "10.1016/s0387-7604(00)00136-4",

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TY - JOUR

T1 - Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease

AU - Ichinose, Hiroshi

AU - Inagaki, Hidehito

AU - Suzuki, Takahiro

AU - Ohye, Tamae

AU - Nagatsu, Toshiharu

N1 - Funding Information: This work was supported by grants-in-aid from the Ministry of Health and Welfare and from Ministry of Education, Science, Sports and Culture of Japan.

PY - 2000/9

Y1 - 2000/9

N2 - The causative gene for hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) was discovered in 1994 to be guanosine triphosphate (GTP) cyclohydrolase I, an enzyme involved in tetrahydrobiopterin biosynthesis. To the present, more than 50 mutations have been found in this gene in HPD/DRD patients. Although it is clear that HPD/DRD is caused by partial deficiency of tetrahydrobiopterin in the brain, several important issues regarding the molecular etiology of HPD/DRD remain to be addressed. We review herein the recent progress in the molecular genetics of HPD/DRD and clarify the points to be answered. Copyright (C) 2000 Elsevier Science B.V.

AB - The causative gene for hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) was discovered in 1994 to be guanosine triphosphate (GTP) cyclohydrolase I, an enzyme involved in tetrahydrobiopterin biosynthesis. To the present, more than 50 mutations have been found in this gene in HPD/DRD patients. Although it is clear that HPD/DRD is caused by partial deficiency of tetrahydrobiopterin in the brain, several important issues regarding the molecular etiology of HPD/DRD remain to be addressed. We review herein the recent progress in the molecular genetics of HPD/DRD and clarify the points to be answered. Copyright (C) 2000 Elsevier Science B.V.

KW - Basal ganglia

KW - Guanosine triphosphate cyclohydrolase I, Tyrosine hydroxylase, Dopamine

KW - Tetrahydrobiopterin

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UR - https://www.scopus.com/pages/publications/0033846461#tab=citedBy

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DO - 10.1016/s0387-7604(00)00136-4

M3 - Article

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AN - SCOPUS:0033846461

SN - 0387-7604

VL - 22

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JO - Brain and Development

JF - Brain and Development

IS - SUPPL. 1

ER -

Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease

Abstract

All Science Journal Classification (ASJC) codes

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