|
Dopa-Responsive Dystonia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Disruption of the normal quaternary enzyme structure by missense variants is a new molecular mechanism that may explain the loss of TH enzymatic activity in DRD.
|
30411798 |
2019 |
|
Dopa-Responsive Dystonia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The mutation p.Arg153X may link to the first type of TH deficiency (typical DRD).
|
28087438 |
2017 |
|
Dopa-Responsive Dystonia
|
0.400 |
Biomarker
|
disease |
BEFREE |
It is important to perform routine screening of GCH1 and TH for patients with DRD.
|
27619486 |
2017 |
|
Dopa-Responsive Dystonia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We further included the tyrosine hydroxylase gene TH, also known to cause DRD.
|
27185167 |
2016 |
|
Dopa-Responsive Dystonia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the genotype-phenotype correlations and diagnostic values of GCH1 and TH mutation screening in DRD patients, we carried out a combined study of familial and sporadic cases in Chinese Han subjects.
|
23762320 |
2013 |
|
Dopa-Responsive Dystonia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
|
23939262 |
2011 |
|
Dopa-Responsive Dystonia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive (AR) forms of DRD are caused by homozygous or compound heterozygous mutations of the tyrosine hydroxylase (TH) or the sepiapterin reductase (SPR) gene.
|
20590807 |
2010 |
|
Dopa-Responsive Dystonia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One locus, DYT14 had been erroneously assigned, by linkage mapping, in a family with dystonia 5.
|
19578124 |
2009 |
|
Dopa-Responsive Dystonia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutant mice exhibited motor deficits phenotypically resembling symptoms of human DRD and manifested a major depletion of TH labeling in the striatum, with a marked posterior-to-anterior gradient resulting in near total loss caudally.
|
18713855 |
2008 |
|
Dopa-Responsive Dystonia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our data suggest that the extent of striatal tyrosine hydroxylase protein loss may be critical in determining dopa-responsive dystonia symptomatology.
|
12112113 |
2002 |
|
Dopa-Responsive Dystonia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Reduced levels of BH4 lead to the dopamine-deficit syndrome DRD because of reduced TH activity.
|
11930268 |
2002 |
|
Dopa-Responsive Dystonia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dopa-responsive dystonia (DRD) is an extrapyramidal disorder caused by deficit of 5,6,7,8-tetrahydrobiopterin (BH4), cofactor for tyrosine hydroxylase (TH).
|
12101048 |
2002 |
|
Dopa-Responsive Dystonia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The data expand the clinical spectrum of TH deficiency and suggest that TH mutations may account for some patients with DRD simulating spastic paraplegia.
|
11160968 |
2001 |
|
Dopa-Responsive Dystonia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dopa-responsive dystonia (DRD) is a disease in which a deficiency of tetrahydrobiopterin, or, less commonly, of tyrosine hydroxylase, results in levodopa-responsive dystonia with parkinson features in children.
|
10830421 |
2000 |
|
Dopa-Responsive Dystonia
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
|
11246459 |
2000 |
|
Dopa-Responsive Dystonia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Tyrosine hydroxylase (TH) deficiency is generally considered as a cause of the autosomal recessive form of dopa-responsive dystonia, also known as Segawa disease.
|
11196107 |
2000 |
|
Dopa-Responsive Dystonia
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
|
10585338 |
1999 |
|
Dopa-Responsive Dystonia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The intracellular concentrations of BH4, which are mainly determined by GCH activity, may regulate the activity of TH (an enzyme-synthesizing catecholamines from tyrosine), TPH (an enzyme-synthesizing serotonin and melatonin from tryptophan), PAH (an enzyme required for complete degradation of phenylalanine to tyrosine, finally to CO2 + H2O), and also the activity of NOS (an enzyme forming NO from arginine), Dominantly inherited hereditary progressive dystonia (HPD), also termed DOPA-responsive dystonia (DRD) or Segawa's disease, is a dopamine deficiency in the nigrostriatal dopamine neurons, and is caused by mutations of one allele of the GCH gene.
|
10321973 |
1999 |
|
Dopa-Responsive Dystonia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Advances in the molecular genetics of dystonia have led to the recent identification of a 3-bp deletion in the DYT1 gene, causing early-onset generalized torsion dystonia (TD), and to the detection of mutations in the GTP cyclohydrolase I and the tyrosine hydroxylase genes causing dopa-responsive dystonia (DYT5).
|
12194383 |
1999 |
|
Dopa-Responsive Dystonia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Measurement of cerebrospinal fluid (CSF) neopterin will detect DRD from mutations in the GCH-I gene but not from mutations in tyrosine hydroxylase.
|
9629849 |
1998 |
|
Dopa-Responsive Dystonia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
When GCH activity is decreased to less than 20% of the normal value, the activity of TH in the nigrostriatal dopaminergic neurons may be first decreased resulting in decreases in TH activity and dopamine level, and in the symptoms of HPD/DRD.
|
9182249 |
1996 |
|
Dopa-Responsive Dystonia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The result indicates that the decreased dopamine level in the basal ganglia in JP is not due to decreased activity of GTP cyclohydrolase I, the enzyme for the biosynthesis of the tetrahydrobiopterin cofactor of tyrosine hydroxylase (TH), and the enzyme activity in mononuclear blood cells could be a reliable method for differential diagnosis between JP and HPD/DRD.
|
7644124 |
1995 |
|
Dopa-Responsive Dystonia
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|