|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
FINDINGS: Pteridines, α-synuclein, mtDNA, 5-hydroxyindolacetic acid, β-D-glucose, lamp2, interleukin-8, and vascular endothelial growth factor were suggested to differentiate LRRK2 PD from sPD patients; 8-hydroxy-2'-deoxyguanosine (8-OHdG), 8-isoprostane (8-ISO), 2-hydroxybutyrate, mtDNA, lamp2, and neopterin may differentiate between LRRK2 CTL and LRRK2 PD subjects; and soluble oligomeric α-synuclein, 8-OHdG, and 8-ISO might differentiate LRRK2 CTL from CTL subjects.
|
31322581 |
2019 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study is to determine the frequency of LRRK2 and SNCA mutations in autosomal dominant PD in Turkey.
|
29248340 |
2018 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD).
|
29398121 |
2018 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The lack of significant differences in the putaminal binding ratios may reflect a floor effect or a true preferential targeting of the caudate terminals in p.A53T SNCA-associated PD.
|
30288781 |
2018 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results confirm that the p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia, particularly in cases with early onset and/or autosomal dominant family history.
|
29233723 |
2018 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although clinical symptoms with LRRK2 mutations are similar to those in sporadic PD, their pathologies are heterogeneous and include nigral degeneration with abnormal inclusions containing alpha-synuclein, tau, TAR DNA-binding protein 43, and ubiquitin, or pure nigral degeneration with no protein aggregation pathologies.
|
30333048 |
2018 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this Commentary, I describe the events that led from an NINDS-sponsored Workshop on Parkinson Disease Research in 1995, where I was asked to speak about the genetics of Parkinson disease, to the identification a mere two years later of a mutation in alpha-synuclein as the cause of autosomal dominant Parkinson disease in the Contursi kindred.
|
28282812 |
2017 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The identification of the p.A53T mutation in the SNCA gene encoding alpha-synuclein (alpha-syn), as causative of autosomal dominant Parkinson disease (PD) represented a fundamental milestone, which paved the way to the extremely prolific field of PD genetics.
|
26341711 |
2016 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The association between SNCA polymorphisms and PD could be explained through an increased expression of these alternative transcripts.
|
24418406 |
2014 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe 2 novel families in which there is autosomal dominant PD associated with SNCA duplication, and we compare the clinical features of all known patients carrying 3 or 4 SNCA copies.
|
23744550 |
2013 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
STN-DBS is safe and effective in patients with SNCA duplication showing a clinical pattern similar to idiopathic PD.
|
21761143 |
2012 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The second known autosomal-dominant PD gene (SNCA) encodes alpha-synuclein, which is deposited in Lewy bodies, the neuropathological hallmark of PD.
|
20074637 |
2010 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although SNCA duplication is an unusual cause of familial PD testing for it is worthwhile.
|
19833540 |
2010 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
While mutation of alpha-synuclein is a cause of autosomal-dominant Parkinson's disease (PD), it is still elusive as to how alpha-synuclein is involved in the pathogenesis of PD.
|
19470380 |
2009 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A de novo alpha-synuclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD).
|
19632874 |
2009 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four of 264 families (1.5%) with typical ADPD carried duplications and 1 of 22 families (4.5%) with atypical AD parkinsonism carried a triplication of SNCA.
|
19139307 |
2009 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Controlling Lrrk2 Asyn phosphokinase activity may be an approach to disease modifying therapy for PD and other synucleinopathies.
|
19576176 |
2009 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Point mutations and genomic multiplications in the alpha-synuclein (alphaSYN) gene cause autosomal-dominant Parkinson's disease.
|
17932682 |
2008 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Variation in SNCA expression may be critical in common, genetically complex PD but the underlying regulatory mechanism is unknown.
|
18669654 |
2008 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
SNCA gene dosage analysis was also performed for AdPD using quantitative duplex polymerase chain reaction of genomic DNA.
|
17222106 |
2007 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
We hypothesize that the neuroinflammation stimulated by release of an excess of normal alpha-synuclein or by release of its mutated forms can be involved in the pathobiology of PD.
|
17012252 |
2006 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loci underlying autosomal dominant forms of most neurodegenerative disease have been identified: prion mutations cause Gerstmann Straussler syndrome and hereditary Creutzfeldt-Jakob disease, tau mutations cause autosomal dominant frontal temporal dementia and alpha-synuclein mutations cause autosomal dominant Parkinson's disease.
|
16042548 |
2005 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, a triplication of the alpha-synuclein locus was found associated with autosomal dominant Parkinson disease in a large family.
|
15642855 |
2005 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loci underlying autosomal dominant forms of most neurodegenerative disease have been identified: prion mutations cause Gerstmann Straussler syndrome and hereditary Creuzfeldt-Jakob disease, tau mutations cause autosomal dominant frontal temporal dementia, and alpha-synuclein mutations cause autosomal dominant Parkinson's disease.
|
14976159 |
2004 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have recently described a whole-gene triplication of alpha-synuclein causing Lewy body parkinsonism in a large, well characterized family called the 'Iowa kindred'.
|
14736756 |
2004 |