Dopa-Responsive Dystonia

Hiroshi Ichinose, Toshiharu Nagatsu, Chiho Ichinose, Takahide Nomura

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

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.

Original languageEnglish
Title of host publicationGenetics of Movement Disorders
PublisherElsevier Inc.
Pages419-428
Number of pages10
ISBN (Print)9780125666527
DOIs
Publication statusPublished - 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)

Cite this

Ichinose, H., Nagatsu, T., Ichinose, C., & Nomura, T. (2003). Dopa-Responsive Dystonia. In 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
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Ichinose, H, Nagatsu, T, Ichinose, C & Nomura, T 2003, Dopa-Responsive Dystonia. in 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.

Research output: Chapter in Book/Report/Conference proceedingChapter

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