|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
BEFREE |
DYT1 early-onset generalized torsion dystonia is a hereditary movement disorder characterized by abnormal postures and repeated movements.
|
31618684 |
2020 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most cases of early onset torsion dystonia (DYT1) are caused by a 3-base pair deletion in one allele of the TOR1A gene causing loss of a glutamate in torsinA, a luminal protein in the nuclear envelope.
|
29396398 |
2018 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
BEFREE |
DYT1+ patients were more likely to achieve ≥ 50% improvement (65%) in BFMDRS-D than DTY1- individuals (29%, p = 0.02), although there was no difference in BFMDRS-M ≥ 50% improvement rates between DYT1+ (66%) or DYT1- (43%) children (p = 0.11).
|
30397842 |
2018 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Functional correlates of symptomatic DYT1 patients (symptomatic DYT1 vs healthy controls) showed increased connectivity in the sensorimotor network.
|
27453152 |
2016 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
MGD |
Here, we identified in two different DYT1 mouse strains, heterozygous torsinA knockout mice (Tor1a+/-) and human ΔGAG mutant torsinA transgenic mice (hMT), the anatomical abnormalities in the cerebellum, during a critical age for synaptogenesis (postnatal day 14, P14).
|
26183317 |
2015 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Early onset isolated dystonia (DYT1) is linked to a three base pair deletion (ΔGAG) mutation in the TOR1A gene.
|
25403864 |
2014 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).
|
25155315 |
2014 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report here different assays useful in determining various parameters of cell migration in DYT1 patient cells as a consequence of the TOR1A gene mutation, including a microfluidic platform, which provides a means to evaluate real-time vectorial movement with single cell resolution in a three-dimensional environment.
|
24880044 |
2014 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A three-nucleotide (GAG) deletion (ΔE) in TorsinA (TOR1A) has been identified as the most common cause of dominantly inherited early-onset torsion dystonia (DYT1).
|
24931141 |
2014 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Evidence suggests that TOR1A mutation produces dystonia through an aberrant neuronal signalling within the striatum, where D2 dopamine receptors (D2R) produce an abnormal excitatory response in cholinergic interneurons (ChIs) in different models of DYT1 dystonia.
|
24951854 |
2014 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
MGD |
Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia.
|
24121114 |
2014 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
MGD |
Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model.
|
23748075 |
2013 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref.5), have been identified.
|
23222958 |
2013 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
BEFREE |
The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia.
|
23460578 |
2013 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A DYT1 mutation is the most common genetic cause of early-onset primary torsion dystonia.
|
22622408 |
2012 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Also, patients with leg or arm onset at a younger age are more likely to be DYT1-positive among primary torsion dystonia cases.
|
22487959 |
2012 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
BEFREE |
DYT1 early-onset generalized torsion dystonia is an inherited movement disorder associated with mutations in DYT1 that codes for torsinA protein.
|
21995941 |
2012 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the coding region of the Tor1A gene, resulting in a deletion of a glutamic acid residue in the torsinA protein (∆ETorA), is the major cause of the inherited autosomal-dominant early onset torsion dystonia (DYT1).
|
22472189 |
2012 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One hundred and two unrelated patients with non-DYT1 early-onset primary dystonia (age at onset <26 years), family members of participants with mutations, and 200 neurologically normal controls were screened for THAP1 gene mutations.
|
21800139 |
2012 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings highlight the sustained benefit from DBS and the importance of early referral for DBS in children with medically refractory DYT1 primary torsion dystonia, which can lead to improved long-term benefits.
|
22811083 |
2012 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, in four patients, deletions involve TOR1A, of which molecular defects lead to early-onset primary dystonia.
|
22722545 |
2012 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
MGD |
Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice.
|
21464304 |
2011 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20).
|
22266882 |
2011 |
|
Early onset torsion dystonia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
After characterization of the TOR1A promoter, we demonstrate that THAP1 binds to the core promoter of TOR1A.
|
20976771 |
2010 |
|
Early onset torsion dystonia
|
0.800 |
Biomarker
|
disease |
BEFREE |
DYT1 early-onset generalized torsion dystonia is an inherited movement disorder caused by mutations in DYT1 coding for torsinA with ∼30% penetrance.
|
20627944 |
2010 |