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 |
|
|
|
rs121917763
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
|
8817341 |
1996 |
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 |
rs121917763
|
|
|
0.030 |
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 |
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism.
|
10802785 |
2000 |
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation.
|
11261505 |
2001 |
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers.
|
11376188 |
2001 |
rs368134308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism.
|
11222788 |
2001 |
rs63750416
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.
|
11585254 |
2001 |
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17.
|
12492138 |
2002 |
rs63751273
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Secondly, either of the two less prevalent genotypes observed in patient 2 may be the factor to modify the phenotype of P301L mutation into those unusual clinical features with prominent parkinsonism.
|
12111297 |
2002 |
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 |
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 |
rs63751438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.
|
12796837 |
2003 |
rs63751165
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N.
|
15178939 |
2004 |
rs63750680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.
|
15469450 |
2004 |
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In summary, our study demonstrates that LRRK2 G2019S accounts for parkinsonism in several families within Europe and North America.
|
15726496 |
2005 |
rs63751165
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.
|
15615814 |
2005 |
rs104893875
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies.
|
16001411 |
2005 |
rs104894685
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis.
|
16116125 |
2005 |
rs758414077
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis.
|
16116125 |
2005 |