|
rs34015634
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a missense variant, p.I2012T, in the LRRK2 gene in one sporadic patient having early-onset frontotemporal dementia with parkinsonism and dystonia.
|
27628070 |
2016 |
|
rs80358259
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment.
|
14639697 |
2003 |
|
rs121908683
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the segregation of R632W with disease in an Iranian consanguineous dystonia-parkinsonism pedigree.
|
19087156 |
2009 |
|
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 |
|
rs121917763
|
|
|
0.010 |
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 |
|
rs146087734
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A c.57C>T silent variant was found in 1 subject with segmental craniocervical dystonia.
|
20083799 |
2010 |
|
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 |
|
rs727502811
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
|
18477710 |
2008 |
|
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 |
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 |
|
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 |
|
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 |
|
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 |
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 |
|
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 |
|
rs142909469
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case cohort, we identified a rare 5'-UTR variant (c.-39G > T), a rare splice-region variant (c.445-8T > C), as well as one novel (p.Ile231Asn) and two rare (p.Ala163Val, p.Thr321Met) missense variants, each in a single patient with adult-onset focal/segmental isolated dystonia.
|
27477622 |
2016 |
|
rs1476648522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the case cohort, we identified a rare 5'-UTR variant (c.-39G > T), a rare splice-region variant (c.445-8T > C), as well as one novel (p.Ile231Asn) and two rare (p.Ala163Val, p.Thr321Met) missense variants, each in a single patient with adult-onset focal/segmental isolated dystonia.
|
27477622 |
2016 |
|
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 |
|
rs1269252748
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We demonstrate that the mutation S100P is associated with proteasome-mediated degradation, and thus presumably represents a null mutation comparable to the Ca8 mutation underlying the previously described waddles mouse, which exhibits ataxia and appendicular dystonia.
|
19461874 |
2009 |
|
rs761104644
|
|
|
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 |