|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Autosomal dominant Parkinson's disease and alpha-synuclein.
|
9749575 |
1998 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Alpha-synuclein is the main component of Lewy bodies (LB), the neuropathological hallmark of PD.
|
10809401 |
2000 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Alpha-synuclein was implicated in Parkinson's disease when missense mutations in the alpha-synuclein gene were found in autosomal dominant Parkinson's disease and alpha-synuclein was shown to be a major constituent of protein aggregates in sporadic Parkinson's disease and other synucleinopathies.
|
14572463 |
2003 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alpha-synuclein is a major protein constituent of Lewy bodies and mutations in alpha-synuclein cause familial autosomal dominant Parkinson's disease.
|
14996933 |
2004 |
|
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 |
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 |
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 |
A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family.
|
10738540 |
1999 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation in exon 4 of the alpha-synuclein (NACP) gene has been reported to explain the chromosome 4 linkage to autosomal dominant Parkinson's disease.
|
9506559 |
1998 |
|
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 |
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 |
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 |
DNA samples from 50 patients with familial PD were screened via single-strand conformation polymorphism (SSCP) for mutations in the alpha-synuclein gene.
|
11748744 |
2001 |
|
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 |
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 |
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 |
However, the discovery that alpha-synuclein is a major component of Lewy bodies and Lewy neurites, the pathological hallmarks of PD, confirmed its role in PD pathogenesis.
|
11215516 |
2000 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in alpha-synuclein have been identified in some rare families with autosomal dominant Parkinson's disease (PD).
|
12480176 |
2002 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the alpha-synuclein (alphaSYN ) gene are associated with rare cases of autosomal-dominant Parkinson's disease.
|
11359883 |
2001 |
|
Parkinson Disease, Familial, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes coding for alpha-synuclein and ubiquitin carboxy-terminal hydrolase have been identified in families with autosomal dominant Parkinson's disease.
|
11193165 |
2000 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Point mutations and genomic multiplications in the alpha-synuclein (alphaSYN) gene cause autosomal-dominant Parkinson's disease.
|
17932682 |
2008 |