Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia
Abstract
It is assumed that brain biopterin and dopamine loss should not be as severe in asymptomatic dopa‐responsive dystonia caused by GCH1 mutations as it is in symptomatic dopa‐responsive dystonia. However, the actual status of dopaminergic systems in asymptomatic cases is unknown. In the autopsied putamen of an asymptomatic GCH1 mutation carrier, we found that brain biopterin loss (−82%) paralleled that reported in dopa‐responsive dystonia patients (−84%). However, tyrosine hydroxylase protein and dopamine levels (−52 and −44%, respectively) were not as severely affected as in symptomatic patients (exceeding −97 and −88%, respectively). Our data suggest that the extent of striatal tyrosine hydroxylase protein loss may be critical in determining dopa‐responsive dystonia symptomatology.
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DRD patients have severely reduced (<3%) TH protein levels in the putamen.
“DRD patients have severely reduced (<3%) TH protein levels in the putamen [5,6].”
From Degradation of Tyrosine Hydroxylase by the Ubiquitin-Proteasome System in the Pathogenesis of Parkinson’s Disease and Dopa-Responsive Dystonia (2020) · cites this paper as [6]
Expression of the gene encoding nigrostriatal tyrosine hydroxylase (TH) is reduced in Parkinson's disease and dopa-responsive dystonia.
“Previous studies revealed that expression of the gene encoding nigrostriatal tyrosine hydroxylase (TH), a rate-limiting enzyme of dopamine biosynthesis, is reduced in Parkinson’s disease and dopa-responsive dystonia”
From Degradation of Tyrosine Hydroxylase by the Ubiquitin-Proteasome System in the Pathogenesis of Parkinson’s Disease and Dopa-Responsive Dystonia (2020) · cites this paper as [6]
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- Authors
- Furukawa, Y., Kapatos, G., Haycock, J. W., Worsley, J., Wong, H., Kish, S. J., & Nygaard, T. G.
- Affiliations
- Centre for Addiction and Mental Health (CA)
- Wayne State University (US)
- Louisiana State University Health Sciences Center New Orleans (US)
- East Orange VA Medical Center (US)
- Corresponding author
- Furukawa, Yoshiaki
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2002-04-23
- Volume
- 51
- Issue
- 5
- Pages
- 637-641
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W1993904488
- Cited by
- 38
- References
- 20
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2022: 1 · 2021: 3 · 2020: 1 · 2017: 1 · 2016: 1 · 2015: 3 · 2014: 5 · 2013: 3 · 2012: 3
- FWCI
- 0.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Keywords
- dopa-responsive dystonia, GCH1 mutations, biopterin, tyrosine hydroxylase, dopamine, striatum, putamen, asymptomatic mutation carriers, dopaminergic system, genotype-phenotype correlation
- MeSH terms
- Antiparkinson Agents, Biopterins, Brain, Dystonia, Female, Humans, Levodopa, Middle Aged, Syndrome, Tyrosine 3-Monooxygenase, Fatal Outcome
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