|
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 |
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 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance.
|
29396174 |
2018 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We tested if OCS/OCD is a clinical manifestation of the DYT1 dystonia mutation by interviewing members of families with an identified DYT1 mutation, and classifying by manifesting carriers (MC), non-manifesting carriers (NMC), and non-carriers (NC).
|
17066475 |
2007 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Recently, association of a TOR1A(DYT1)/TOR1B risk haplotype with common forms of idiopathic dystonia has been reported in the Icelandic population.
|
17130424 |
2006 |
|
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 |
GeneticVariation
|
group |
BEFREE |
While a 3-bp deletion in the DYT1 gene is the most frequent cause of early limb-onset, generalized dystonia, it has also been found in non-generalized forms of sporadic dystonia.
|
16631205 |
2006 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Interestingly, mutations in the TOR1A gene (the gene encoding torsinA) are associated with DYT1 dystonia and with the preferential localization of mutated torsinA at the NE, where it is associated with lamina-associated polypeptide 1.
|
30246678 |
2019 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Notably, mutations in both of these genes lead to dystonia (DYT6 or DYT1).
|
25088175 |
2014 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
These findings provide functional evidence for the potential pathogenic nature of these rare sequence variants in the TOR1A gene, thus implicating these pathologies in the development of dystonia.
|
24930953 |
2014 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We tested DYT1 GAG-deletion carriers with (n=119) and without (n=113) clinical signs of dystonia and control individuals (n=197) and found the frequency of the 216H allele to be increased in GAG-deletion carriers without dystonia and to be decreased in carriers with dystonia, compared with the control individuals.
|
17503336 |
2007 |