rs1224426272
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0.010 |
GeneticVariation |
BEFREE |
Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study.
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31229470 |
2019 |
rs137852538
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0.010 |
GeneticVariation |
BEFREE |
To investigate the nigrostriatal system using 99mTc-TRODAT-1 SPECT binding and report the phenotype of three affected males with early onset levodopa responsive Parkinsonism harbouring the c.491 A > T/p.D164V pathogenic variant.
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30975619 |
2019 |
rs139548132
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0.010 |
GeneticVariation |
BEFREE |
Here, we report the case of a 17-year-old boy with compound heterozygous mutations in WARS2 (p.Trp13Gly, p.Ser228Trp) who presented with infantile-onset, Levodopa-responsive Parkinsonism at the age of 2 years.
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29120065 |
2018 |
rs3135500
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0.010 |
GeneticVariation |
BEFREE |
For rs3135500, differences in genotype distributions, dominant and additive genetic models, were found between MSA and HCs, and between MSA Parkinsonism (MSA-P) patients and HCs.
|
29881342 |
2018 |
rs63750072
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0.010 |
GeneticVariation |
BEFREE |
Six variants (rs1801334, rs33995883, rs35507033, rs781737269, rs779760087, and rs63750072) were evaluated as pathogenic by at least one in-silico predictor.No single "founder" pathogenic variant associated with parkinsonism has been found in any of the probands from researched pedigree.
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30235682 |
2018 |
rs63750522
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|
0.010 |
GeneticVariation |
BEFREE |
Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.
|
30180983 |
2018 |
rs63750577
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0.010 |
GeneticVariation |
BEFREE |
A review of the available case reports indicates some phenotypic variability associated with the S170F mutation including different constellations of symptoms such as parkinsonism and delusions.
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29466804 |
2018 |
rs772784579
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0.010 |
GeneticVariation |
BEFREE |
GRN p.T487I mutation, which decreases the stability of progranulin protein, could be a new causative mutation in patients with atypical parkinsonian disorders.
|
29530724 |
2018 |
rs1239756674
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|
0.010 |
GeneticVariation |
BEFREE |
The purpose of this study was to determine the concentration of plasma norepinephrine (NE), epinephrine (E), and serotonin (5-HT) in two collections, after a 30-min supine (I) and 5-min upright position (II), and polymorphisms of genes, COMT (c.649G>A), MAO-A (c.1460C>T), and NET (c.1287G>A), in patients with Parkinson's disease (PD) and other degenerative parkinsonism and controls.
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28418735 |
2017 |
rs1290141855
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0.010 |
GeneticVariation |
BEFREE |
The purpose of this study was to determine the concentration of plasma norepinephrine (NE), epinephrine (E), and serotonin (5-HT) in two collections, after a 30-min supine (I) and 5-min upright position (II), and polymorphisms of genes, COMT (c.649G>A), MAO-A (c.1460C>T), and NET (c.1287G>A), in patients with Parkinson's disease (PD) and other degenerative parkinsonism and controls.
|
28418735 |
2017 |
rs542171324
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0.010 |
GeneticVariation |
BEFREE |
Hence, alpha-synuclein p.A53V homozygous mutation leads to a distinct phenotype of progressive parkinsonism and cognitive decline, commonly observed in patients with SNCA missense mutation or multiplications.
|
28666710 |
2017 |
rs5569
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|
0.010 |
GeneticVariation |
BEFREE |
The purpose of this study was to determine the concentration of plasma norepinephrine (NE), epinephrine (E), and serotonin (5-HT) in two collections, after a 30-min supine (I) and 5-min upright position (II), and polymorphisms of genes, COMT (c.649G>A), MAO-A (c.1460C>T), and NET (c.1287G>A), in patients with Parkinson's disease (PD) and other degenerative parkinsonism and controls.
|
28418735 |
2017 |
rs74315360
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0.010 |
GeneticVariation |
BEFREE |
From the clinical information available for the index case, the phenotype of mild, slowly-progressive Parkinsonism is consistent with previous reports of p.A217D disease and of PINK1 disease phenotype more generally.
|
28789629 |
2017 |
rs748705829
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|
0.010 |
GeneticVariation |
BEFREE |
For this study, SIRT3-myc was administered both before and after viral induction of parkinsonism with the AAV-expressing mutant (A53T) α-synuclein.
|
28673739 |
2017 |
rs757199733
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0.010 |
GeneticVariation |
BEFREE |
The P88L mutation additionally featured early myoclonus followed by Parkinsonism.
|
28550247 |
2017 |
rs767543900
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0.010 |
GeneticVariation |
BEFREE |
Although cognitive decline has been recognized as a feature of the full-blown clinical picture of p.A53T related parkinsonism, a predominant frontotemporal dementia-like phenotype at presentation has not been previously described.
|
28012952 |
2017 |
rs781442277
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0.010 |
GeneticVariation |
BEFREE |
Given the role of 2p23 locus in patients with intellectual disability and the previously reported PTRHD1 mutation (c.155G>A) in patients with parkinsonism and cognitive dysfunction, we concluded that the PTRHD1 mutation identified in this study is likely to be responsible for the phenotypic features of the family under consideration.
|
27753167 |
2017 |
rs80338892
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|
|
0.010 |
GeneticVariation |
BEFREE |
The mutation p.Arg233His was predicted to link to the second type of TH deficiency (dopa-responsive infantile parkinsonism with delayed motor development).
|
28087438 |
2017 |
rs1426868527
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|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical phenotype comprised of asymmetrical onset, slowly progressive Parkinsonism with levodopa induced motor restlessness in a patient with the novel mutation (c.313 A > T, p. Ile105Phe) while subjects with c.293 G > A, p.Arg98Gln had early onset levodopa responsive symmetrical Parkinsonism.
|
27592010 |
2016 |
rs1555727942
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0.010 |
GeneticVariation |
BEFREE |
We studied two patients, a pair of monozygotic twins, carrying the R1006C mutation of the NOTCH3 gene and affected by a parkinsonian syndrome.
|
26850715 |
2016 |
rs2421947
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|
0.010 |
GeneticVariation |
BEFREE |
We found that DNM3 rs2421947 was a haplotype tag for which the median onset of LRRK2 parkinsonism in GG carriers was 12·5 years younger than that of CC carriers (Arab-Berber cohort, hazard ratio [HR] 1·89, 95% CI 1·20-2·98).
|
27692902 |
2016 |
rs267604921
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|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family.
|
27311648 |
2016 |
rs34015634
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|
|
0.010 |
GeneticVariation |
BEFREE |
Analyzing family members of the proband with p.I2012T revealed co-segregation of the variant and parkinsonism.
|
27628070 |
2016 |
rs369634041
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|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical phenotype comprised of asymmetrical onset, slowly progressive Parkinsonism with levodopa induced motor restlessness in a patient with the novel mutation (c.313 A > T, p. Ile105Phe) while subjects with c.293 G > A, p.Arg98Gln had early onset levodopa responsive symmetrical Parkinsonism.
|
27592010 |
2016 |
rs41311141
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|
0.010 |
GeneticVariation |
BEFREE |
After filtering against common variants (minor allele frequency (MAF) < 0.01), 2 noncoding and 1 synonymous rare mutation potentially associable with parkinsonism were identified: GIGYF2-GRB10 Interacting GYF Protein 2, PARK11 (c.*2030G > A, rs115669549); VPS35 gene-vacuolar protein sorting 35, PARK17 (c.102 + 33G > A, rs192115886); and FBXO7-F-box only protein 7 gene, PARK15 (c.540A > G, rs41311141).
|
27861377 |
2016 |