|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
DYT1 dystonia is transmitted as an autosomal dominant trait with reduced penetrance.
|
19157930 |
2009 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
In the present study, we used hyperkinetic transgenic mice generated as a model of DYT1 dystonia and compared the basal ganglia dopaminergic system between transgenic mice exhibiting hyperkinesia (affected), transgenic mice not showing movement abnormalities (unaffected), and non-transgenic littermates.
|
21136125 |
2010 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our study suggests that there is an association between rs35153737 and dystonia in a southwestern Chinese population, and it may be caused by high linkage disequilibrium between this deletion and potential pathogenic variants in TOR1A.
|
28756192 |
2017 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Early onset in a limb and progression toward a generalized form, but not family history of dystonia, are indicative of DYT1 dystonia in Polish dystonic individuals.
|
17539945 |
2007 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
There is no evidence of neurodegeneration in DYT1 dystonia, which suggests that mutant TA leads to functional neuronal abnormalities, leading to dystonic movements.
|
20298201 |
2010 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We used a multidisciplinary approach to investigate the responses to mu activation in 2 mouse models of DYT1 dystonia (Tor1a<sup>+/Δgag</sup> mice, Tor1a<sup>+/-</sup> torsinA null mice, and their respective wild-types).
|
29150865 |
2018 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Sensorimotor tests unmask a phenotype in the DYT1 knock-in mouse model of dystonia.
|
27769743 |
2017 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The authors report on 2 cases of pediatric generalized dystonia with a DYT1 mutation; the patients, an 11-year-old girl and a 9-year-old boy, underwent chronic, pallidal deep brain stimulation (DBS) of the globus pallidus internus (GPi).
|
24032990 |
2013 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Analysis of 83 published series including 5,057 patients indicated significant differences in the mean age at onset of five phenotypes of PTD (mean age at onset; 95% CI): DYT1 dystonia (11.3 years; 10.3 to 12.2), writer's cramp (38.4; 36.9 to 39.9), CD (40.8; 40.3 to 41.3), spasmodic dysphonia (43.0; 42.2 to 43.9), and blepharospasm-oromandibular dystonia (55.7; 55.1 to 56.4).
|
15505159 |
2004 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.
|
15326234 |
2004 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Moreover, dystonia and Parkinson disease share the common feature of reduced dopamine neurotransmission in the striatum, so we assumed that mutations in the DYT1 gene might have the same role in cases of early onset primary torsion dystonia (EOPTD) and early onset Parkinson disease (EOPD) that present dystonia.
|
19038309 |
2009 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A 3-base pair (GAG) deletion in the DYT1 gene has recently been found to be responsible for most cases of early-onset primary generalized dystonia.
|
11104212 |
2000 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Dystonia remained focal in both siblings.A DYT1 gene deletion was excluded.
|
11481697 |
2001 |
|
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 |
GeneticVariation
|
group |
BEFREE |
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
|
9618171 |
1998 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
In contrast, ʟ-DOPA, which is not usually effective for the treatment of DYT1 dystonia, did not increase dopamine release in either Dyt1 or control mice.
|
30707939 |
2019 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Shorter disease duration correlates with improved long-term deep brain stimulation outcomes in young-onset DYT1 dystonia.
|
22811083 |
2012 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutational analysis of most of the coding region and splice junctions of TOR1A and TOR1B did not reveal additional mutations in typical early onset cases lacking the GAG deletion (N = 17), in dystonic individuals with apparent homozygosity in the 9q34 chromosomal region (N = 5), or in a representative Ashkenazic Jewish individual with late onset dystonia, who shared a common haplotype in the 9q34 region with other late onset individuals in this ethnic group.
|
10644435 |
1999 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
TOR1-A (DYT1) gene was linked to isolated dystonia.
|
25337725 |
2014 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Patients with primary dystonia, with or without the DYT1 mutation, may show irregular and arrhythmic jerky movements associated with dystonia.
|
21496608 |
2011 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
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 Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
The variable clinical manifestation in different ethnic groups may suggest that ethnicity is a significant modifier of DYT1 dystonia.
|
22622408 |
2012 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Genetic testing excluded the rapid-onset dystonia-parkinsonism locus (DYT12; OMIM*128235), autosomal recessive Parkin locus (PARK2; OMIM *602544), and DYT1 dystonia.
|
15390042 |
2005 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Executive dysfunction is a feature of cognitive function in idiopathic and DYT1 dystonia.
|
29077804 |
2017 |