rs421016
|
|
G |
0.730 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs1057518882
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555507479
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs2230288
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs756677845
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs113994097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Parkinsonism is one of the phenotypic features associated also with the W748S mutation.
|
18321754 |
2008 |
rs761807915
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Parkinsonism with dopa-sensitivity and a correlating DaTSCAN turned out to be due to a D202N mutation which is associated with the Gerstmann-Sträussler-Scheinker (GSS) disease.
|
23436635 |
2013 |
rs2032582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
G2677T/A and C3435T genotypes were not associated to psychopathological symptoms, efficacy of treatment and risk for parkinsonism.
|
20060871 |
2010 |
rs63750424
|
|
|
0.030 |
GeneticVariation |
BEFREE |
R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes.
|
29370822 |
2018 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
G2019S-LRRK2 mutation enhances MPTP-linked Parkinsonism in mice.
|
31813996 |
2020 |
rs121917763
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Leu205Pro polymorphism is a rare mutation that is reported to cause Parkinsonism in infancy for individuals who are homozygous for the mutated type.
|
9613851 |
1998 |
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predominant for parkinsonism.
|
22169201 |
2012 |
rs886039227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy.
|
29499916 |
2018 |
rs886039227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel heterozygous mutation, DCTN1 c.156T>G, encoding p.Phe52Leu, segregates with parkinsonism in a Japanese family.
|
24676999 |
2014 |
rs63750444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.
|
12111359 |
2002 |
rs63750577
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A review of the available case reports indicates some phenotypic variability associated with the S170F mutation including different constellations of symptoms such as parkinsonism and delusions.
|
29466804 |
2018 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A series of 106 patients with isolated or familial Parkinsonism underwent clinical evaluation and genetic testing for the LRRK2 G2019S mutation which was identified in 34/106 patients (32%).
|
20933457 |
2010 |
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A significant association between patients with parkinsonism exposed to pesticides and C3435T polymorphism of the MDR1 gene was found.
|
12724617 |
2003 |
rs34995376
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism.
|
18952485 |
2009 |
rs41311141
|
|
|
0.010 |
GeneticVariation |
BEFREE |
After filtering against common variants (minor allele frequency (MAF) < 0.01), 2 noncoding and 1 synonymous rare mutation potentially associable with parkinsonism were identified: GIGYF2-GRB10 Interacting GYF Protein 2, PARK11 (c.*2030G > A, rs115669549); VPS35 gene-vacuolar protein sorting 35, PARK17 (c.102 + 33G > A, rs192115886); and FBXO7-F-box only protein 7 gene, PARK15 (c.540A > G, rs41311141).
|
27861377 |
2016 |
rs63751273
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?
|
23121543 |
2014 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
All patients carrying the LRRK2 G2019S exhibited typical levodopa-responsive parkinsonism, and severe levodopa-induced dyskinesia was observed in the patient carrying the LRRK2 and parkin mutations.
|
17388990 |
2007 |
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Although cognitive decline has been recognized as a feature of the full-blown clinical picture of p.A53T related parkinsonism, a predominant frontotemporal dementia-like phenotype at presentation has not been previously described.
|
28012952 |
2017 |
rs767543900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although cognitive decline has been recognized as a feature of the full-blown clinical picture of p.A53T related parkinsonism, a predominant frontotemporal dementia-like phenotype at presentation has not been previously described.
|
28012952 |
2017 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S leucine-rich repeat kinase 2 (LRRK2) parkinsonism, response to surgery in other LRRK2 mutations has not been previously reported.
|
23938256 |
2012 |