|
rs6265
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia.
|
25523127 |
2015 |
|
rs759834365
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia.
|
25523127 |
2015 |
|
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 |
|
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 |
|
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 |
|
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 |
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 |
|
rs759834365
|
|
|
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 |
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
|
18477710 |
2008 |
|
rs1801968
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, we found no association of rs1801968 with dystonia.
|
26940431 |
2017 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs11655081
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found an association between the known risk variant ARSG rs11655081 and dystonia (p = 0.003).
|
31731261 |
2019 |
|
rs1296383102
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D).
|
31679561 |
2019 |
|
rs786205675
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, our study identifies sAHP as a downstream cellular target perturbed by N75K mutation in DYT2 dystonia, demonstrates its impact on neuronal excitability, and suggests a potential therapeutic strategy to efficiently treat DYT2.
|
31301343 |
2019 |
|
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 |
|
rs146170087
|
|
|
0.010 |
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 |
|
rs397514477
|
|
|
0.010 |
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 |
|
rs574658589
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole-exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene in two unrelated Turkish dystonia families presenting with complex dystonia.
|
30145809 |
2018 |
|
rs35153737
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs374512193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of three nucleotide variants were detected, which include a reported missense mutation (c.427 A>G; p.Met143Val) in a juvenile onset generalized dystonia patient, a novel frameshift deletion mutation (c.208-209 ΔAA; p.K70VfsX15) in a juvenile onset cervical dystonia patient and a rare variant in 3' UTR of THAP1 (c.*157 T>C) in an adult-onset blepharospasm patient.
|
27913194 |
2017 |
|
rs550921485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia).
|
28398555 |
2017 |