Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease.
|
17531291 |
2007 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggested that the SNP rs7684318 (T>C) transition of the SNCA gene contributes to PD susceptibility in Chinese Han population, which is consistent with the earlier study form Japan.
|
20513365 |
2010 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Salivary total α-synuclein, oligomeric α-synuclein and SNCA variants in Parkinson's disease patients.
|
27335051 |
2016 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Association with PD was tested as PARK2 main effect, and in combination with known PD risk factors: SNCA, MAPT, APOE, smoking, and coffee intake.
|
20876472 |
2010 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although most patients suffering from PD have a sporadic disease, several genetic causes have been identified in recent years, including alpha-synuclein, parkin, PINK1, dardarin (LRRK2), and DJ-1.
|
17085780 |
2006 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms.
|
20437567 |
2010 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Since alterations in synuclein function may predispose to the disease pathology of PD, regardless of the presence of genetic mutations, a more thorough understanding of the cellular regulation and function of alpha-synuclein may be of crucial importance to our understanding of this degenerating disorder.
|
12025860 |
2002 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
We conclude that the alpha-synuclein (G209A) gene mutation genotype should be considered in the differential diagnosis of dementia with Lewy bodies, particularly in patients with European ancestry and a family history of Parkinson's disease.
|
17049244 |
2006 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
|
23404372 |
2013 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we used a mouse model, overexpressing the complete human SNCA gene (SNCA-TG mice) modeling familial and sporadic forms of PD to study whether environmental conditions such as standard <i>vs.</i> enriched environment changes the gut microbiome and influences disease progression.
|
31749671 |
2019 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Implicated in neurotoxicity are two alphaSN mutants (A53T and A30P) that cause extremely rare familial forms of PD, alphaSN fibrils and protofibrils, soluble protein complexes of alphaSN with 14-3-3 protein, and phosphorylated, nitrosylated, and ubiquitylated alphaSN species.
|
12814657 |
2003 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SNCA polymorphism rs356219 may be associated with early-age-onset PD, common among patients with GD+PD.
|
25111979 |
2014 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While an Ala53Thr mutation in alpha-synuclein can cause PD in humans, in mice the wildtype residue at position 53 is threonine, indicating that mice are either too short-lived to develop PD, or are protected by the six other amino acid differences between the proteins in these two species.
|
15585343 |
2005 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The frequency of SNCA rs356182-G allele was significantly higher in PD group than that in controls (odds ratio (OR)=1.470, 95% confidence interval (CI): 1.284-1.683, P=2.306E-8).
|
27538639 |
2016 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Survivors of blast-induced traumatic brain injury (bTBI) have increased susceptibility to Parkinson's disease (PD), characterized by α-synuclein aggregation and the progressive degeneration of nigrostriatal dopaminergic neurons.
|
31201929 |
2019 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine RBD specific genetic features associated to an increased risk of progression to PD, by sequencing of the SNCA-3'UTR in patients with "idiopathic" RBD (iRBD) and in patients with PD.
|
28409245 |
2017 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
The three single nucleotide polymorphisms (SNPs) of the promoter region (rs2583988, rs2619364, rs2619363) and a SNP in the 3'UTR (rs356165) of the SNCA gene showed the greatest evidence for an association with PD (p <or= 0.003), with significant pairwise values for linkage disequilibrium (D' >or= 0.74, r (2) >or= 0.29).
|
17872362 |
2007 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that the association of LRRK2 p.R1398H with Parkinson's disease is independent of SNCA and MAPT variants, and vice versa, in Caucasian and Asian populations.
|
23962496 |
2014 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study demonstrated that SNCA rs2736990 C > T polymorphism was associated with susceptibility to PD in Chinese Han population.
|
24005725 |
2014 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two families (two patients from Family A and one from Family B) with SNCA duplication were identified among ADPD patients.
|
16358335 |
2006 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results of studies concerning SNCA polymorphisms and PD susceptibility remain conflicting.
|
25656566 |
2015 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We outline the clinical impact of α-synuclein locus multiplications, and the implications that this has for Parkinson's disease pathogenesis.
|
21887711 |
2011 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our findings indicate that genetic variations of the alpha-synuclein gene affect the development of sporadic PD.
|
17078049 |
2006 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mitochondrial division inhibitor-1 is neuroprotective in the A53T-α-synuclein rat model of Parkinson's disease.
|
28790323 |
2017 |
Parkinson Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results further show that the common structural feature of the three PD-associated mutants is more compact and rigid sites at their N and C termini compared with WT α-Syn that may facilitate the formation of a partially folded intermediate that eventually leads to their increased oligomerization propensities.
|
25635052 |
2015 |