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PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
|
9197268 |
1997 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.
|
9462735 |
1998 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease.
|
9862427 |
1998 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here we demonstrate that wild type and two mutant forms of alpha-synuclein linked to familial Parkinson's disease (Ala30 --> Pro and Ala53 --> Thr) self-aggregate and assemble into 10-19-nm-wide filaments with distinct morphologies under defined in vitro conditions.
|
10075647 |
1999 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Additionally, recent genetic studies based on linkage analysis and cosegregation of A53T and A30P missense mutations demonstrated that the alpha-synuclein gene may be responsible for the development of at least some cases of familial Parkinson's disease.
|
10192768 |
1999 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Absence of G209A and G88C mutations in the alpha-synuclein gene of Parkinson's disease in a Chinese population.
|
10567818 |
1999 |
|
Parkinson Disease, Familial, Type 1
|
|
0.030 |
GeneticVariation
|
BEFREE |
Subsequently, another mutation in the gene (G88C) was also identified in a German family with autosomal PD.
|
10567818 |
1999 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Parkinson's disease-associated mutations have no effect on membrane interaction; however, the Ala-30 --> Pro mutation alters the three-dimensional conformation of alpha-synuclein, as measured by significantly increased fluorescence resonance energy transfer between the N and C termini.
|
10722726 |
2000 |
|
Familial (FPAH)
|
|
0.080 |
GeneticVariation
|
BEFREE |
Two missense mutations (Ala-30 --> Pro and Ala-53 --> Thr) in the gene encoding alpha-synuclein are associated with rare autosomal dominant forms of familial Parkinson's disease.
|
10722726 |
2000 |
|
Parkinson Disease, Familial, Type 1
|
|
0.030 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
We failed to discover Ala53Thr or Ala30Pro mutations in a large number of Chinese patients with PD and control subjects, adding to the emerging consensus that variations in the alpha-synuclein gene are associated with PD in few families worldwide.
|
10768624 |
2000 |
|
Familial (FPAH)
|
|
0.080 |
GeneticVariation
|
BEFREE |
alpha-Synuclein is a key component of Lewy bodies found in the brains of patients with Parkinson's disease and two point mutations in this protein, Ala53Thr and Ala30Pro, are associated with rare familial forms of the disease.
|
10799759 |
2000 |
|
Parkinson Disease
|
|
0.100 |
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 |
|
Familial (FPAH)
|
|
0.080 |
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 |
|
Lewy Body Disease
|
|
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 |
|
Lewy Body Variant of Alzheimer Disease
|
|
0.010 |
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 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two point mutations associated with Parkinson's disease have little (A30P) or no (A53T) effect on lipid binding or alpha-helicity.
|
10952980 |
2000 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Parkinson's disease-associated human mutant [A30P]alphaSYN was found to colocalize with betaSYN and synaptophysin in synapses of transgenic mouse brain.
|
10964942 |
2000 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two mutants of human alpha-synuclein (A53T and A30P) have been linked to early-onset, familial PD.
|
10978144 |
2000 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The discovery of two missense mutations (A53T and A30P) in the gene encoding the presynaptic protein alpha-synuclein (alphaSN) that are genetically linked to rare familial forms of Parkinson's disease and its accumulation in Lewy bodies and Lewy neurites has triggered several attempts to generate transgenic mice overexpressing human alphaSN.
|
11113617 |
2000 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The G88C and G209A mutations do not seem to be the predominant genetic determinant of PD among Indians.
|
11227130 |
2001 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The familial Parkinson's disease associated mutations of alpha-synuclein (Ala53Thr and Ala30Pro) also demonstrate a strong interaction between their C-terminal regions and synphilin-1.
|
11331421 |
2001 |
|
Familial (FPAH)
|
|
0.080 |
GeneticVariation
|
BEFREE |
The familial Parkinson's disease associated mutations of alpha-synuclein (Ala53Thr and Ala30Pro) also demonstrate a strong interaction between their C-terminal regions and synphilin-1.
|
11331421 |
2001 |
|
Impaired cognition
|
|
0.020 |
GeneticVariation
|
BEFREE |
Neuropsychological testing in four mutation carriers provided evidence for cognitive impairment as a frequent and early symptom of the A30P mutation; this is also supported by regional cerebral energy metabolism alterations in the clinically presymptomatic subject.
|
11376188 |
2001 |