|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Odor identification is diminished in LRRK2 G2019S mutation parkinsonism but the asymptomatic carriers of the mutation had normal olfaction.
|
18809839 |
2008 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report a Brazilian male expressing both late-onset AD and slowly progressive parkinsonism signs, and who presented the most frequent LRRK2 mutation (p.G2019S).
|
19072560 |
2008 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The distribution in age at onset and clinical features in Lrrk2 p.R1441C patients are similar to idiopathic and Lrrk2 p.G2019S parkinsonism.
|
18337586 |
2008 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using Cox proportional hazard models to evaluate the risk of parkinsonism among family members of PD subjects, having a daughter with PD compared with a son was associated with increased risk of parkinsonism in the parent (HR 2.59, p=0.014) as was having a child with a LRRK2 G2019S mutation (HR 3.19, p=0.003).
|
21511009 |
2011 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have identified Family SK where Lrrk2 G2019S segregates with slowly progressive parkinsonism and the affected proband has tau-immunopositive neurofibrillary tangle pathology.
|
17060589 |
2006 |
|
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 |
|
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 |
|
rs33939927
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Clinically, p.R1441C carriers had typical levodopa-responsive parkinsonism with tremor as the most common presenting feature.
|
18197194 |
2008 |
|
rs33939927
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Further analysis of family members of the proband with the p.R1441G mutation revealed that her mother and first cousin shared the same mutation and parkinsonism.
|
24973808 |
2014 |
|
rs33939927
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The distribution in age at onset and clinical features in Lrrk2 p.R1441C patients are similar to idiopathic and Lrrk2 p.G2019S parkinsonism.
|
18337586 |
2008 |
|
rs111501952
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we found that the proband and his mother carried the G2385R variant of the LRRK2, a strong risk factor for PD in Asians and the rare V1450I variant, although only the proband showed symptoms of parkinsonism.No mutations were found in parkin.
|
23124679 |
2013 |
|
rs34015634
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyzing family members of the proband with p.I2012T revealed co-segregation of the variant and parkinsonism.
|
27628070 |
2016 |
|
rs34995376
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism.
|
18952485 |
2009 |
|
rs35801418
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Bilateral STN-DBS in LRRK2-parkinsonism with the Y1699C mutation can be as effective as in sporadic PD.
|
23938256 |
2012 |
|
rs34778348
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The leucine-rich repeat kinase 2 (Lrrk2) G2385R substitution is associated with familial parkinsonism, late-, and early-onset Parkinson's disease in ethnic Chinese Taiwanese.
|
17222580 |
2007 |
|
rs1239756674
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The purpose of this study was to determine the concentration of plasma norepinephrine (NE), epinephrine (E), and serotonin (5-HT) in two collections, after a 30-min supine (I) and 5-min upright position (II), and polymorphisms of genes, COMT (c.649G>A), MAO-A (c.1460C>T), and NET (c.1287G>A), in patients with Parkinson's disease (PD) and other degenerative parkinsonism and controls.
|
28418735 |
2017 |
|
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17.
|
21681797 |
2011 |
|
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
[<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT.
|
30773680 |
2019 |
|
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia.
|
26295349 |
2015 |
|
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family.
|
27311648 |
2016 |
|
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 |
|
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 |
|
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 |
|
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation.
|
17319286 |
2007 |
|
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.
|
17715352 |
2007 |