|
rs104893875
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Patients with idiopathic Parkinson's disease (n = 63), dementia with Lewy bodies (n = 8), and E46K mutation carriers in the α-synuclein gene (E46K-SNCA) (n = 4) and 34 controls underwent Spectralis optical coherence tomography macular scans and a comprehensive battery of visual function and cognition tests.
|
31136022 |
2019 |
|
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 |
|
rs104893875
|
|
|
0.860 |
GeneticVariation |
BEFREE |
An αS '3K' mutant (E35K + E46K + E61K) that amplifies the PD/DLB-causing E46K mutation induced αS-rich vesicle clusters resembling the vesicle-rich areas of Lewy bodies, supporting pathogenic relevance.
|
28911198 |
2017 |
|
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 |
|
rs104893875
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Recently, a third missense mutation (E46K) in alpha-synuclein was described in an inherited form of dementia with Lewy bodies.
|
15498564 |
2004 |
|
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 |
|
rs104893875
|
|
T |
0.860 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104893877
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Proteinase K-resistant alpha-synuclein is deposited in presynapses in human Lewy body disease and A53T alpha-synuclein transgenic mice.
|
20339856 |
2010 |
|
rs104893877
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene.
|
15981014 |
2005 |
|
rs104893877
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Missense mutations (A30P and A53T) in alpha-synuclein and the overproduction of the wild-type protein cause familial forms of Parkinson's disease and dementia with Lewy bodies.
|
15498564 |
2004 |
|
rs104893877
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].
|
12719631 |
2003 |
|
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 |
|
rs104893877
|
|
|
0.760 |
GeneticVariation |
BEFREE |
In addition, we have sequenced exon 4 of this gene in 5 cases of familial disease and have screened for the specific mutation (A53T) in a 40 cases of idiopathic Parkinson's disease, 3 cases of multisystem atrophy, and 15 cases of Lewy body dementia.
|
9506559 |
1998 |
|
rs104893877
|
|
T |
0.760 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104893936
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Furthermore, two missense mutations (P123H and V70M) of beta-syn were recently identified in DLB.
|
19711118 |
2009 |
|
rs104893937
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Furthermore, two missense mutations (P123H and V70M) of beta-syn were recently identified in DLB.
|
19711118 |
2009 |
|
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 |
|
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 |
|
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
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104893937
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
rs76763715
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|