|
rs121917763
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism.
|
10661862 |
1999 |
|
rs146170087
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI.
|
30088953 |
2018 |
|
rs6265
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Minor allele "A" of BDNF Val66Met SNP may increase the risk for developing BSP and may be a protective factor for preventing BSP progressing to craniocervical dystonia.
|
23816543 |
2013 |
|
rs6265
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia.
|
25523127 |
2015 |
|
rs6265
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Moreover, there was no relationship between Val66Met SNP and age at dystonia onset or type of dystonia.
|
19473353 |
2009 |
|
rs727502811
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Two missense variations have been described in single patients: R288Q (c.863G>A; p.Arg288Gln; R288Q) identified in a patient with onset of severe generalized dystonia and myoclonus since infancy and F205I (c.613T>A, p.Phe205Ile; F205I) in a psychiatric patient with late-onset focal dystonia.
|
24930953 |
2014 |
|
rs727502811
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some DeltaGAG mutation carriers present with late-onset focal dystonia.
|
19284587 |
2009 |
|
rs727502811
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
|
18477710 |
2008 |
|
rs759834365
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia.
|
25523127 |
2015 |
|
rs759834365
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Moreover, there was no relationship between Val66Met SNP and age at dystonia onset or type of dystonia.
|
19473353 |
2009 |
|
rs759834365
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Minor allele "A" of BDNF Val66Met SNP may increase the risk for developing BSP and may be a protective factor for preventing BSP progressing to craniocervical dystonia.
|
23816543 |
2013 |
|
rs1182
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele.
|
19202559 |
2009 |
|
rs1182
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003).
|
25203860 |
2015 |
|
rs1801968
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02).
|
23460578 |
2013 |
|
rs1801968
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, we found no association of rs1801968 with dystonia.
|
26940431 |
2017 |
|
rs3842225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003).
|
25203860 |
2015 |
|
rs3842225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The rs35153737 variant showed a statistically significant association with dystonia using the allele model (P=0.035) and the dominant genetic model (P=0.018); however, no association between rs3842225 and dystonia was found.
|
28756192 |
2017 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Marginal associations with akathisia (p=0.039 and p=0.042, respectively) and dystonia (p=0.013 and p=0.034, respectively) were observed for both G2677T/A and C3435T genotypes.
|
20060871 |
2010 |
|
rs104893877
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After the administration of apomorphine, A53T-transgenic mice showed more severe stereotypic and dystonic movements in comparison with wild-type controls.
|
25307288 |
2015 |
|
rs104894003
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood.
|
29788902 |
2018 |
|
rs104894442
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient.
|
10987649 |
1999 |
|
rs1057519279
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome-sequencing-based exploration of a further 30 German-Austrian individuals with early-onset generalized dystonia uncovered another three deleterious mutations in KMT2B-one de novo nonsense mutation (c.1633C>T [p.Arg545<sup>∗</sup>]), one de novo essential splice-site mutation (c.7050-2A>G [p.Phe2321Serfs<sup>∗</sup>93]), and one inherited nonsense mutation (c.2428C>T [p.Gln810<sup>∗</sup>]) co-segregating with dystonia in a three-generation kindred.
|
27839873 |
2016 |
|
rs1057519281
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome-sequencing-based exploration of a further 30 German-Austrian individuals with early-onset generalized dystonia uncovered another three deleterious mutations in KMT2B-one de novo nonsense mutation (c.1633C>T [p.Arg545<sup>∗</sup>]), one de novo essential splice-site mutation (c.7050-2A>G [p.Phe2321Serfs<sup>∗</sup>93]), and one inherited nonsense mutation (c.2428C>T [p.Gln810<sup>∗</sup>]) co-segregating with dystonia in a three-generation kindred.
|
27839873 |
2016 |
|
rs11655081
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found an association between the known risk variant ARSG rs11655081 and dystonia (p = 0.003).
|
31731261 |
2019 |
|
rs121434410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT.
|
26231208 |
2015 |