|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
<b>Conclusions:</b> Clinical heterogeneity was observed among <i>LRRK2</i>-associated PD in different variants in total and in different ethnic groups, especially for G2019S and G2385R.
|
30283330 |
2018 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD.
|
31292011 |
2020 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
|
20197411 |
2010 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Parkinson disease is noted for its association with mutations in GBA and the p.G2019S mutation in LRRK2.
|
26169695 |
2015 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Parkinson's Disease-Linked LRRK2-G2019S Mutation Alters Synaptic Plasticity and Promotes Resilience to Chronic Social Stress in Young Adulthood.
|
30249796 |
2018 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.
|
16149095 |
2005 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
|
16240353 |
2005 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S is the most common genetic determinant of Parkinson's disease identified so far.
|
16272257 |
2005 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S, located at a kinase (MAPKKK) domain, is the most common mutation in the LRRK2 gene in PD, Two adjacent mutations (I2012T and I2020T) were mapped to the same domain suggesting shared pathogenic mechanism of these mutations.
|
16939701 |
2006 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the R1441C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G.
|
17097110 |
2006 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S mutation of the leucine-rich repeat kinase 2 gene in a cohort of Egyptian patients with Parkinson's disease.
|
21699405 |
2011 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S, the most frequent mutation, is responsible for both familial and sporadic cases of PD.
|
23227859 |
2013 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S carriers do not manifest changes in gray matter volume or diffusivity parameters in Parkinson's disease-related structures prior to the appearance of motor symptoms.
|
24482120 |
2014 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Fibroblasts from PD patients (with or without the G2019S LRRK2 mutation) and control subjects were used to assess the different phenotypes between idiopathic and genetic PD.
|
30032424 |
2019 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S variant is rare in Asian populations, whereas two other Asian-specific LRRK2 variants, G2385R and R1628P, are more frequent with a twofold increased risk of PD.
|
31041581 |
2019 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
G2019S Variation in LRRK2: An Ideal Model for the Study of Parkinson's Disease?
|
31551736 |
2019 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A G2019S molecular test for PD would be highly specific, technically simple, and inexpensive.
|
17020475 |
2006 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A common mutation changing Gly2019 to serine enhances catalytic activity, suggesting that small-molecule inhibitors might have utility in treating Parkinson's disease.
|
19740074 |
2009 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A comprehensive interview conducted by sleep specialists, validated sleep scales and questionnaires, and video-polysomnography followed by multiple sleep latency test (MSLT) assessed sleep in 18 LRRK2-PD (17 carrying G2019S and one R1441G mutations), 17 NMC (11 G2019S, three R1441G, three R1441C), 14 non-manifesting non-carriers (NMNC) and 19 unrelated IPD.
|
26177462 |
2015 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A major risk-factor for developing Parkinson's disease (PD) is genetic variability in leucine-rich repeat kinase 2 (LRRK2), most notably the p.G2019S mutation.
|
25000966 |
2014 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A PARK8 form of Parkinson's disease<</span>/span> (PD) is caused by a novel gene, leucine-rich repeat kinase 2 (LRRK2), and a single mutation G2019S was found in a proportion of LRRK2-associated cases of diverse ethnic origins.
|
17388990 |
2007 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Adenoviral-mediated expression of G2019S LRRK2 induces striatal pathology in a kinase-dependent manner in a rat model of Parkinson's disease.
|
25731749 |
2015 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Alteration G2019S in the leucine-rich repeat kinase 2 gene (LRRK2) has been identified in several populations of patients with parkinsonism, including Ashkenazi Jewish subjects with Parkinson disease.
|
16781064 |
2006 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although the changes Gly2019Ser and Gly2385Arg of LRRK2 are associated with PD in different populations; they may be a rare cause of PD in our population.
|
24729340 |
2014 |
|
Parkinson Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Among 192 patients with Parkinson's disease (mean age±SD, 63.9±11.8 years; disease onset, 54.0±12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation.
|
21538529 |
2011 |