Dopa-Responsive Dystonia

Hiroshi Ichinose, Toshiharu Nagatsu, Chiho Ichinose, Takahide Nomura

研究成果: Chapter

1 引用 (Scopus)

抄録

The causative gene for dopa-responsive dystonia (DRD) is discovered to be that for guanosine triphosphate cyclohydrolase I (GCH), an enzyme involved in tetrahydrobiopterin biosynthesis. DRD patients are heterozygous in terms of the mutations. More than 70 mutations are found in this gene in DRD patients. A defective GCH gene results in a decreased biopterin content and thus in a decreased dopamine production in the brain. Analysis of the molecular etiology of DRD should help understand the pathophysiology of basal ganglia disorders, including Parkinson's disease. This chapter emphasizes that the nigro-striatal dopaminergic neurons are highly susceptible to a deficiency of tetrahydrobiopterin and the resulting defect in dopamine production. There are several types of dopa-responsive basal ganglia diseases. Parkinson's disease is the most well-known disease in that category. DRD is a disorder characterized by childhood or adolescent-onset of dystonia and by a dramatic response to low-dose L-dopa. DRD is also caused by dysfunction of nigro-striatal dopaminergic neurons, although its main symptom is dystonia, not parkinsonism. It is noted that blocking of dopamine receptors by neuroleptics produces a dystonic reaction in childhood, whereas in adults it results in parkinsonism. Parkinsonian symptoms sometimes appears later in DRD patients in adolescence.

元の言語English
ホスト出版物のタイトルGenetics of Movement Disorders
出版者Elsevier Inc.
ページ419-428
ページ数10
ISBN(印刷物)9780125666527
DOI
出版物ステータスPublished - 01-01-2003

Fingerprint

Dihydroxyphenylalanine
Basal Ganglia Diseases
Corpus Striatum
Dystonia
Dopaminergic Neurons
Parkinsonian Disorders
Genes
Parkinson Disease
Dopamine
Neurons
Biopterin
Mutation
Phenylketonurias
Dopamine Receptors
Levodopa
Guanosine Triphosphate
Dopa-Responsive Dystonia
Biosynthesis
Antipsychotic Agents
Brain

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

これを引用

Ichinose, H., Nagatsu, T., Ichinose, C., & Nomura, T. (2003). Dopa-Responsive Dystonia. : Genetics of Movement Disorders (pp. 419-428). Elsevier Inc.. https://doi.org/10.1016/B978-012566652-7/50039-3
Ichinose, Hiroshi ; Nagatsu, Toshiharu ; Ichinose, Chiho ; Nomura, Takahide. / Dopa-Responsive Dystonia. Genetics of Movement Disorders. Elsevier Inc., 2003. pp. 419-428
@inbook{5f57f5753a43437b9adbbf9d95011480,
title = "Dopa-Responsive Dystonia",
abstract = "The causative gene for dopa-responsive dystonia (DRD) is discovered to be that for guanosine triphosphate cyclohydrolase I (GCH), an enzyme involved in tetrahydrobiopterin biosynthesis. DRD patients are heterozygous in terms of the mutations. More than 70 mutations are found in this gene in DRD patients. A defective GCH gene results in a decreased biopterin content and thus in a decreased dopamine production in the brain. Analysis of the molecular etiology of DRD should help understand the pathophysiology of basal ganglia disorders, including Parkinson's disease. This chapter emphasizes that the nigro-striatal dopaminergic neurons are highly susceptible to a deficiency of tetrahydrobiopterin and the resulting defect in dopamine production. There are several types of dopa-responsive basal ganglia diseases. Parkinson's disease is the most well-known disease in that category. DRD is a disorder characterized by childhood or adolescent-onset of dystonia and by a dramatic response to low-dose L-dopa. DRD is also caused by dysfunction of nigro-striatal dopaminergic neurons, although its main symptom is dystonia, not parkinsonism. It is noted that blocking of dopamine receptors by neuroleptics produces a dystonic reaction in childhood, whereas in adults it results in parkinsonism. Parkinsonian symptoms sometimes appears later in DRD patients in adolescence.",
author = "Hiroshi Ichinose and Toshiharu Nagatsu and Chiho Ichinose and Takahide Nomura",
year = "2003",
month = "1",
day = "1",
doi = "10.1016/B978-012566652-7/50039-3",
language = "English",
isbn = "9780125666527",
pages = "419--428",
booktitle = "Genetics of Movement Disorders",
publisher = "Elsevier Inc.",
address = "United States",

}

Ichinose, H, Nagatsu, T, Ichinose, C & Nomura, T 2003, Dopa-Responsive Dystonia. : Genetics of Movement Disorders. Elsevier Inc., pp. 419-428. https://doi.org/10.1016/B978-012566652-7/50039-3

Dopa-Responsive Dystonia. / Ichinose, Hiroshi; Nagatsu, Toshiharu; Ichinose, Chiho; Nomura, Takahide.

Genetics of Movement Disorders. Elsevier Inc., 2003. p. 419-428.

研究成果: Chapter

TY - CHAP

T1 - Dopa-Responsive Dystonia

AU - Ichinose, Hiroshi

AU - Nagatsu, Toshiharu

AU - Ichinose, Chiho

AU - Nomura, Takahide

PY - 2003/1/1

Y1 - 2003/1/1

N2 - The causative gene for dopa-responsive dystonia (DRD) is discovered to be that for guanosine triphosphate cyclohydrolase I (GCH), an enzyme involved in tetrahydrobiopterin biosynthesis. DRD patients are heterozygous in terms of the mutations. More than 70 mutations are found in this gene in DRD patients. A defective GCH gene results in a decreased biopterin content and thus in a decreased dopamine production in the brain. Analysis of the molecular etiology of DRD should help understand the pathophysiology of basal ganglia disorders, including Parkinson's disease. This chapter emphasizes that the nigro-striatal dopaminergic neurons are highly susceptible to a deficiency of tetrahydrobiopterin and the resulting defect in dopamine production. There are several types of dopa-responsive basal ganglia diseases. Parkinson's disease is the most well-known disease in that category. DRD is a disorder characterized by childhood or adolescent-onset of dystonia and by a dramatic response to low-dose L-dopa. DRD is also caused by dysfunction of nigro-striatal dopaminergic neurons, although its main symptom is dystonia, not parkinsonism. It is noted that blocking of dopamine receptors by neuroleptics produces a dystonic reaction in childhood, whereas in adults it results in parkinsonism. Parkinsonian symptoms sometimes appears later in DRD patients in adolescence.

AB - The causative gene for dopa-responsive dystonia (DRD) is discovered to be that for guanosine triphosphate cyclohydrolase I (GCH), an enzyme involved in tetrahydrobiopterin biosynthesis. DRD patients are heterozygous in terms of the mutations. More than 70 mutations are found in this gene in DRD patients. A defective GCH gene results in a decreased biopterin content and thus in a decreased dopamine production in the brain. Analysis of the molecular etiology of DRD should help understand the pathophysiology of basal ganglia disorders, including Parkinson's disease. This chapter emphasizes that the nigro-striatal dopaminergic neurons are highly susceptible to a deficiency of tetrahydrobiopterin and the resulting defect in dopamine production. There are several types of dopa-responsive basal ganglia diseases. Parkinson's disease is the most well-known disease in that category. DRD is a disorder characterized by childhood or adolescent-onset of dystonia and by a dramatic response to low-dose L-dopa. DRD is also caused by dysfunction of nigro-striatal dopaminergic neurons, although its main symptom is dystonia, not parkinsonism. It is noted that blocking of dopamine receptors by neuroleptics produces a dystonic reaction in childhood, whereas in adults it results in parkinsonism. Parkinsonian symptoms sometimes appears later in DRD patients in adolescence.

UR - http://www.scopus.com/inward/record.url?scp=38549162660&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=38549162660&partnerID=8YFLogxK

U2 - 10.1016/B978-012566652-7/50039-3

DO - 10.1016/B978-012566652-7/50039-3

M3 - Chapter

AN - SCOPUS:38549162660

SN - 9780125666527

SP - 419

EP - 428

BT - Genetics of Movement Disorders

PB - Elsevier Inc.

ER -

Ichinose H, Nagatsu T, Ichinose C, Nomura T. Dopa-Responsive Dystonia. : Genetics of Movement Disorders. Elsevier Inc. 2003. p. 419-428 https://doi.org/10.1016/B978-012566652-7/50039-3