|
rs1990622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequencies of minor alleles for rs1990622 and rs3173615 in TMEM106B were significantly different between PD patients with initial symptoms of tremor and rigidity/bradykinesia (p=0.001), and between patients with initial symptom of rigidity/bradykinesia and HCs (p<0.001).
|
28477711 |
2017 |
|
rs900147
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, the positive association of the ARNTL rs900147 variant was more robust in tremor dominant (TD) (P = 3.44 × 10(-4)) than postural instability and gait difficulty (PIGD) cases (P = 6.06 × 10(-2)).
|
26507264 |
2015 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No statistically significant correlation between MDR1 gene polymorphism C3435T and tremor was found.
|
15886424 |
2006 |
|
rs869312713
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs200455852
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs606231435
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs146170087
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs515726205
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80338777
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study identified an Arg528His CACNL1A3 mutation in patients with hypoPP, and excluded this mutation as the cause of tremor or epilepsy in this kindred.
|
11034874 |
2000 |
|
rs1554317002
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057524157
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
|
rs1057524157
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
rs6280
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We did not identify any effect of DRD3 Ser9Gly on tremor in PD, even when regarding various symptom combinations to avoid missing a weak effect on the phenotype.
|
20434388 |
2010 |
|
rs104894158
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, Egr2(I268N/I268N) mutant mice maintain normal weight and have only mild tremor until 2 weeks after birth, at which point they rapidly develop worsening weakness and uniformly die within several days.
|
19244508 |
2009 |
|
rs3810651
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GABRA4-L26M, GABRE-S102A, and GABRQ-I478F genotype and allelic frequencies did not differ significantly between patients with ET and controls, and were unrelated to the age at onset of tremor or sex.
|
21422964 |
2011 |
|
rs1564282
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on motor Unified Parkinson's Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor.
|
24514572 |
2014 |
|
rs2230288
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
|
rs1289324472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all.
|
25111979 |
2014 |
|
rs76763715
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all.
|
25111979 |
2014 |
|
rs397514698
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs76732092
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, co-expression of WT and Q331K mutant (TDP-43(WTxQ331K)) resulted in an extremely aggressive motor phenotype with tremor from 3 weeks and progressive hind-limb paralysis necessitating euthanasia by 8-10 weeks of age.
|
26108367 |
2015 |
|
rs786205232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor.
|
27733563 |
2016 |
|
rs34016896
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In subgroup analysis, compared with PD patients with initial symptom of tremor and HCs, the minor allele frequency of NMD3 rs34016896 in PD patients with initial symptoms of rigidity/bradykinesia was significantly lower.
|
29564728 |
2018 |
|
rs281865051
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we discovered a novel LRRK2 variant V1613A in a family with a tremor dominant form of AdPD; this variant was not present in controls.
|
18435766 |
2008 |
|
rs33939927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinically, p.R1441C carriers had typical levodopa-responsive parkinsonism with tremor as the most common presenting feature.
|
18197194 |
2008 |