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

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

Research output: Contribution to journalArticle

22 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 languageEnglish
Pages (from-to)107-110
Number of pages4
JournalBrain and Development
Volume22
Issue numberSUPPL. 1
Publication statusPublished - 01-01-2000

Fingerprint

Dopa-Responsive Dystonia
Phenylketonurias
Guanosine Triphosphate
Genes
Molecular Biology
Mutation
Brain
Enzymes
sapropterin

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Ichinose, Hiroshi ; Inagaki, Hidehito ; Suzuki, Takahiro ; Oe, Tamae ; Nagatsu, Toshiharu. / Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease. In: Brain and Development. 2000 ; Vol. 22, No. SUPPL. 1. pp. 107-110.
@article{b8a5ed5d827f44589447aef74011e149,
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.",
author = "Hiroshi Ichinose and Hidehito Inagaki and Takahiro Suzuki and Tamae Oe and Toshiharu Nagatsu",
year = "2000",
month = "1",
day = "1",
language = "English",
volume = "22",
pages = "107--110",
journal = "Brain and Development",
issn = "0387-7604",
publisher = "Elsevier",
number = "SUPPL. 1",

}

Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease. / Ichinose, Hiroshi; Inagaki, Hidehito; Suzuki, Takahiro; Oe, Tamae; Nagatsu, Toshiharu.

In: Brain and Development, Vol. 22, No. SUPPL. 1, 01.01.2000, p. 107-110.

Research output: Contribution to journalArticle

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 - Oe, Tamae

AU - Nagatsu, Toshiharu

PY - 2000/1/1

Y1 - 2000/1/1

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.

UR - http://www.scopus.com/inward/record.url?scp=0033846461&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033846461&partnerID=8YFLogxK

M3 - Article

VL - 22

SP - 107

EP - 110

JO - Brain and Development

JF - Brain and Development

SN - 0387-7604

IS - SUPPL. 1

ER -