|
rs72824905
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We validated the associations previously reported with ABI3_rs616338-T and PLCG2_rs72824905-G in a Caucasian AD case-control cohort, and observed a similar direction of effect in DLB.
|
30326945 |
2018 |
|
rs104893875
|
|
|
0.860 |
GeneticVariation |
BEFREE |
We studied 7 E46K-SNCA carriers (3 dementia with Lewy bodies, 2 pure autonomic failure, 1 PD and 1 asymptomatic), 2 PARK2 carriers and 2 healthy controls to quantify intraepidermal nerve fiber density and p-synuclein deposition with cervical skin punch biopsies (immunohistochemistry against anti PGP9.5/UCHL-1, TH and p-synuclein) and sudomotor function with electrochemical skin conductance (ESC) (SudoScan).
|
31178336 |
2019 |
|
rs377591051
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied 7 E46K-SNCA carriers (3 dementia with Lewy bodies, 2 pure autonomic failure, 1 PD and 1 asymptomatic), 2 PARK2 carriers and 2 healthy controls to quantify intraepidermal nerve fiber density and p-synuclein deposition with cervical skin punch biopsies (immunohistochemistry against anti PGP9.5/UCHL-1, TH and p-synuclein) and sudomotor function with electrochemical skin conductance (ESC) (SudoScan).
|
31178336 |
2019 |
|
rs4680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We sought to determine whether the COMT val158met polymorphism (rs4680) is associated with delusions and hallucinations in people with dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD).
|
23069674 |
2012 |
|
rs72824905
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD).
|
31131421 |
2019 |
|
rs76763715
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease.
|
24973356 |
2014 |
|
rs1289324472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease.
|
24973356 |
2014 |
|
rs104893875
|
|
|
0.860 |
GeneticVariation |
BEFREE |
We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies.
|
16001411 |
2005 |
|
rs104893936
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Two missense mutations (P123H and V70M) of beta-synuclein (beta-syn), the homologue of alpha-syn, have been recently identified in dementia with Lewy bodies.
|
17652097 |
2007 |
|
rs104893937
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Two missense mutations (P123H and V70M) of beta-synuclein (beta-syn), the homologue of alpha-syn, have been recently identified in dementia with Lewy bodies.
|
17652097 |
2007 |
|
rs104893937
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Two amino acid alterations were identified in unrelated DLB index cases: a valine to methionine substitution at codon 70 (V70M) and a proline to histidine substitution at codon 123 (P123H), both in the beta-synuclein gene.
|
15365127 |
2004 |
|
rs104893936
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Two amino acid alterations were identified in unrelated DLB index cases: a valine to methionine substitution at codon 70 (V70M) and a proline to histidine substitution at codon 123 (P123H), both in the beta-synuclein gene.
|
15365127 |
2004 |
|
rs1342971994
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two amino acid alterations were identified in unrelated DLB index cases: a valine to methionine substitution at codon 70 (V70M) and a proline to histidine substitution at codon 123 (P123H), both in the beta-synuclein gene.
|
15365127 |
2004 |
|
rs6265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To date, there have been several conflicting reports on the correlation between AD or PD and Val66Met or C270T polymorphism in the BDNF promoter region, although no data on this relationship have been published with respect to dementia with Lewy bodies (DLB).
|
16899999 |
2006 |
|
rs759834365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To date, there have been several conflicting reports on the correlation between AD or PD and Val66Met or C270T polymorphism in the BDNF promoter region, although no data on this relationship have been published with respect to dementia with Lewy bodies (DLB).
|
16899999 |
2006 |
|
rs34637584
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Thirty-five consecutively recruited AJ patients with newly diagnosed clinically probable or possible DLB underwent genotyping for the 7 known AJ GBA mutations and the LRRK2 G2019S mutation.
|
27723861 |
2016 |
|
rs2306604
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data show that the TFAM SNP rs2306604 A allele may be a risk factor for PDD, particularly in males, but not for DLB.
|
24184878 |
2013 |
|
rs104893877
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The presynaptic protein alpha-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson's disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer's disease. alpha-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the alpha-synuclein gene are genetically linked to rare familial forms of Parkinson's disease.
|
10934251 |
2000 |
|
rs104893878
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The presynaptic protein alpha-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson's disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer's disease. alpha-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the alpha-synuclein gene are genetically linked to rare familial forms of Parkinson's disease.
|
10934251 |
2000 |
|
rs63751273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study examined the similarities of tau APFs with other tau amyloid species and showed for the first time the presence of tau APFs in brain tissue from patients with progressive supranuclear palsy (PSP) and dementia with Lewy bodies (DLB), as well as in the P301L mouse model, which overexpresses mutated tau.
|
24887264 |
2014 |
|
rs104893875
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
|
rs104893875
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
|
rs421016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB).
|
31539859 |
2019 |
|
rs774457232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |
|
rs112176450
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects.
|
21907011 |
2011 |