rs1990622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The minor alleles "T" of rs1990622 and "C" of rs3173615 increased the risk for PD patients with initial symptom of rigidity/bradykinesia (OR: 1.21[1.10-1.34] and OR: 1.19[1.07-1.31], respectively).
|
28477711 |
2017 |
rs363371
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this Chinese patient population, "GG" of rs363371 in VMAT2 may reduce the risk for SALS, while minor alleles of rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia.
|
28477711 |
2017 |
rs151344517
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
|
20725928 |
2010 |
rs11866328
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Various tag SNPs reached nominal significance; TD with rs1345423, rs7192557, rs1650420, as well as rs11644461; orofacial dyskinesia with rs7192557, rs1650420, as well as rs4911871; limb truncal dyskinesia with rs1345423, rs7192557, rs1650420, as well as rs11866328; bradykinesia with rs2192970; akathisia with rs324035; and the principal-factor with rs10772715.
|
23226551 |
2012 |
rs10772715
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Various tag SNPs reached nominal significance; TD with rs1345423, rs7192557, rs1650420, as well as rs11644461; orofacial dyskinesia with rs7192557, rs1650420, as well as rs4911871; limb truncal dyskinesia with rs1345423, rs7192557, rs1650420, as well as rs11866328; bradykinesia with rs2192970; akathisia with rs324035; and the principal-factor with rs10772715.
|
23226551 |
2012 |
rs2192970
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Various tag SNPs reached nominal significance; TD with rs1345423, rs7192557, rs1650420, as well as rs11644461; orofacial dyskinesia with rs7192557, rs1650420, as well as rs4911871; limb truncal dyskinesia with rs1345423, rs7192557, rs1650420, as well as rs11866328; bradykinesia with rs2192970; akathisia with rs324035; and the principal-factor with rs10772715.
|
23226551 |
2012 |
rs1555731819
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two cohorts of G2019S KI mice and wild-type littermates (WT) were subjected to behavioral tests, specific for akinesia, bradykinesia and overall gait ability, at different ages (3, 6, 10, 15 and 19months).
|
25107341 |
2014 |
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness (bradykinesia, p = 0.021).
|
19458969 |
2010 |
rs200660418
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The main goal of this work was to describe two MJD patients displaying the parkinsonian triad (tremor, bradykinesia and rigidity), namely on what concerns genetic variation in Parkinson's disease (PD) associated loci (PARK2, LRRK2, PINK1, DJ-1, SNCA, MAPT, APOE, and mtDNA tRNA(Gln) T4336C).
|
22023810 |
2011 |
rs587784347
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs63750687
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
rs63750522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a 37-year-old male Korean patient carrying a PSEN1 p.Gly417Ala mutation with exceptionally early and severe presentations, including a wide range of atypical symptoms of rapid cognitive decline with a stooped posture, rigidity, and bradykinesia.
|
30180983 |
2018 |
rs4606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The current study investigates the association between rs4606 and AIP or its subsymptoms (rest tremor, rigidity, and bradykinesia) in 112 psychiatric inpatients of African-Caribbean origin.
|
19156702 |
2009 |
rs3173615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this Chinese patient population, "GG" of rs363371 in VMAT2 may reduce the risk for SALS, while minor alleles of rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia.
|
28477711 |
2017 |
rs1564045331
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs778543124
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|