|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
The authors report a Chinese boy with a DYT1 gene mutation having muscle stiffness, severe painful muscle spasm, myoclonus, and dystonia compatible with stiff child syndrome.
|
16275837 |
2005 |
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism.
|
18519876 |
2008 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
LHGDN |
Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia.
|
16934985 |
2006 |
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
|
18477710 |
2008 |
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Physiological studies in carriers of the DYT1 gene mutation.
|
14615676 |
2003 |
|
Dystonia
|
0.500 |
AlteredExpression
|
phenotype |
LHGDN |
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.
|
12609485 |
2003 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
LHGDN |
Our findings in DYT1 transgenic mice are compatible with previous neuroimaging and postmortem neurochemical studies of human DYT1 dystonia.
|
18299128 |
2008 |
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
We have used a transgenic mouse model of DYT1 dystonia [human mutant-type (hMT)1 mice] to examine the effect of the mutant human torsinA protein on striatal dopaminergic function.
|
17550429 |
2007 |
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
They also suggest possible connections between the allelic polymorphism at residue 216 and the penetrance of DYT1 dystonia, as well as a possible role for this polymorphism in related disease states.
|
16537570 |
2006 |
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
1.The prevalence of DYT1 mutation among patients with early-onset (<or= 24 years) dystonia was 20.8% and it was similar to that found in other European populations.2.
|
18224570 |
2008 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
LHGDN |
Intrafamilial phenotypic and genetic heterogeneity of dystonia.
|
17027035 |
2006 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Based on this evidence, herein we carried out a comprehensive analysis of electrophysiological, behavioral and signaling correlates of D2R transmission in transgenic mice with the DYT1 dystonia mutation.
|
20227500 |
2010 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Mutations in GNAL cause primary torsion dystonia.
|
23222958 |
2013 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
In the present study, we further characterized transgenic DYT1 mice, which were initially described to exhibit "dystonia-like" postures.
|
21078339 |
2011 |
|
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
|
9288096 |
1997 |
|
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
The role of DYT1 in primary torsion dystonia in Europe.
|
9874484 |
1998 |
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The authors screened 197 patients with dystonia (generalized: n = 5; focal/segmental: n = 126; myoclonus-dystonia: n = 34; neuroleptic-induced: n = 32), 435 with PD, and 42 with various other movement disorders, along with 812 healthy controls, for small deletions in exon 5 of DYT1 and tested for exon rearrangements by quantitative, duplex PCR in 51 GAG deletion-negative dystonia cases.
|
14872019 |
2004 |
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.
|
7845403 |
1994 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
DYT1 dystonia appears to be a previously uncharacterized NE disease and the first, to our knowledge, to selectively affect CNS function.
|
14711988 |
2004 |
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Odds ratios (ORs) were calculated in each study to estimate the influence of TOR1A SNPs genotypes on the risk of dystonia.
|
28081261 |
2017 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Comparison is made to 23 patients with DYT1 dystonia also treated with GPi-DBS by the same team.
|
21949105 |
2012 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The DYT1 forms of generalized dystonia and cervical dystonias respond to DBS better than secondary dystonia does.
|
15264771 |
2004 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Two other non-Jewish families with atypical ITD (later onset and/or cranial or cervical involvement) are not linked to DYT1, which indicates involvement of other genes in dystonia.
|
8079990 |
1994 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Optogenetic augmentation of the hypercholinergic endophenotype in DYT1 knock-in mice induced erratic hyperactive movements but not dystonia.
|
30819512 |
2019 |
|
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Finally, recent studies using DYT1 dystonia worm and mouse models led to a potential novel therapeutic agent, which is currently undergoing clinical trials.
|
23893455 |
2013 |