|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, evaluation of LRRK1 variants in our large Lrrk2 p.G2019S-parkinsonism series from a Tunisian (n=145) identified a missense mutation (p.L416M) resulting in an average 6.2 years younger age at disease onset.
|
20144646 |
2010 |
|
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 |
|
rs63750756
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, we have generated transgenic mice (designated as SJLB) carrying human N279K mutant tau, one of the tau mutations causing parkinsonism linked to chromosome 17 (FTDP-17).
|
19898260 |
2009 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this brain bank-based series, LRRK2 G2019S mutation occurred in patients with parkinsonism associated with either typical brainstem LB pathology or non-specific nigral degeneration.
|
18353371 |
2008 |
|
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 |
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 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in approximately 1% of sporadic cases of Parkinsonism.
|
17230458 |
2007 |
|
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 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The underlying disease mechanisms of LRRK2 G2019S-associated parkinsonism are similar to those of typical Parkinson disease.
|
16966501 |
2006 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, G2019S was not found in 18 patients with Gaucher disease who developed parkinsonian manifestations and 11 other Gaucher probands with parkinsonism in a first degree relative.
|
16781064 |
2006 |
|
rs34637584
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism.
|
16437559 |
2006 |
|
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 |
In summary, our study demonstrates that LRRK2 G2019S accounts for parkinsonism in several families within Europe and North America.
|
15726496 |
2005 |
|
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 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study.
|
31229470 |
2019 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We screened for the p. A53T SNCA mutation a total of 347 cases of Greek origin with parkinsonism and/or dementia, collected over 15 years at the Neurogenetics Unit, Eginition Hospital, University of Athens.
|
29233723 |
2018 |
|
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 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
For this study, SIRT3-myc was administered both before and after viral induction of parkinsonism with the AAV-expressing mutant (A53T) α-synuclein.
|
28673739 |
2017 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Fibrillar accumulation of A53T mutant α-synuclein (A53T-AS) in Lewy bodies is a symptom of Parkinsonism.
|
28786917 |
2017 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
This study demonstrate that curcumin protected against A53T mutant α-synuclein-induced cell death via inhibition of oxidative stress and the mitochondrial cell death pathway, suggesting that curcumin may be a candidate neuroprotective agent for A53T α-synuclein-linked Parkinsonism, and possibly for other genetic or sporadic forms of PD.
|
21237271 |
2011 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation.
|
11261505 |
2001 |