|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
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 Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
In idiopathic or DYT1 dystonia, cognition is largely intact with only isolated executive dysfunction.
|
28627117 |
2017 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
The current study provides the first in vivo support that direct pathological insult to forebrain torsinA in a symptomatic mouse model of DYT1 dystonia can engage genetically normal hindbrain regions into an aberrant connectivity network.
|
28673740 |
2017 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Using a microarray screen to identify genes expressed in this intermediate population, we find the kelch-like family member Klhl14, implicated in dystonia through its direct binding with torsion-dystonia-related protein Tor1a.
|
29045835 |
2017 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Here, we provide for the first time direct measurement of elevated striatal extracellular acetylcholine (ACh) in a knock-in mouse model of human DYT1 dystonia (TorA<sup>∆E/+</sup> mice), confirming a striatal hypercholinergic state.
|
28587876 |
2017 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Membrane defects and genetic redundancy: Are we at a turning point for DYT1 dystonia?
|
27911022 |
2017 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We report that changes of phosphodiesterase-10A (PDE10A) can map widespread functional imbalance of basal ganglia circuits in a mouse model of DYT1 dystonia overexpressing mutant torsinA.
|
28115486 |
2017 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
This control mechanism is offset by a TorsinA mutation implicated in the severe movement disorder DYT1 dystonia, suggesting a critical role for the functional Torsin-cofactor interplay <i>in vivo</i>.
|
28553638 |
2017 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Three genes (GCH1, THAP1, TOR1A) were associated with isolated generalized dystonia, whereas 2 (ANO3, ADCY5) gave rise to combined dystonia-myoclonus phenotypes.
|
27666935 |
2017 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
We conclude that there is ample evidence to suggest that the cerebellum plays a role in some dystonias, including the early-onset primary torsion dystonia DYT1 and that further studies examining the role of this brain region and its interaction with the basal ganglia in dystonia are warranted.
|
28843013 |
2017 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The last exon of TOR1A was sequenced in 229 cases with isolated dystonia and in 210 controls.
|
28432771 |
2017 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Although clinically similar to most cohorts with dystonia worldwide, the classical mutation (c.907_909delGAG) in TOR1A (causing DYT1) is absent in our patients.
|
26940431 |
2017 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We screened the entire coding sequence and the 5'-UTR region of TOR1A for rare non-ΔGAG sequence variants in a large series of 940 individuals with various forms of isolated dystonia as well as in 376 ancestry-matched controls.
|
27477622 |
2016 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
These scientific contributions strengthen the role of LAP1 in DYT1 dystonia and muscular dystrophy.
|
26596547 |
2016 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Dystonia type 1 (DYT1) is one of the different forms of inherited dystonia, a neurological disorder characterized by involuntary, disabling movements.
|
27707963 |
2016 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Rodent models of DYT1 dystonia, a motor disorder caused by a single gene mutation, demonstrate increased long-term potentiation and decreased long-term depression in corticostriatal synapses.
|
27249418 |
2016 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Here, we discover a role for deficient eIF2α signaling in DYT1 dystonia, a rare inherited generalized form, through a genome-wide RNAi screen.
|
27939583 |
2016 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
GNAL mutations are not a common cause of dystonia in the Brazilian population and have a lower prevalence than THAP1 and TOR1A mutations.
|
26810727 |
2016 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
TOR1A (torsinA, DYT1) is the leading cause of early-onset generalized dystonia, however, the associations between common TOR1A single nucleotide polymorphisms (SNPs) and primary adult-onset focal dystonia are controversial.
|
26704435 |
2016 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Together with previous findings in the motor cortex and the spinal cord, the brainstem may lie closer to the pathogenesis of dystonia than the motor cortex in DYT1 gene carriers.
|
27508977 |
2016 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
This study argues that DYT1 dystonia is a network disorder, with crucial nodes in sensory-motor integration of posterior parietal structures.
|
27453152 |
2016 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
This observation raises the possibility of genotype-phenotype correlations in DYT1 and indicates that the clinical spectrum of this type of dystonia might be broader then previous classic descriptions.
|
26297380 |
2015 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
To analyze contribution of rs3842225 and rs1182 single nucleotide polymorphisms (SNP) in TOR1A gene, the causative gene for the DYT1 form of hereditary early-onset generalized dystonia, to the development of focal and segmental dystonia in Russian patients.
|
25203860 |
2015 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Studying Torsins has significant medical relevance since mutations in Torsins or Torsin-associated proteins result in a variety of congenital human disorders, the most frequent of which is early-onset torsion (DYT1) dystonia, a severe movement disorder.
|
26592310 |
2015 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
However, whether dopamine imbalance is key to DYT1 or other forms of dystonia continues to be debated.
|
25860259 |
2015 |