|
rs398122403
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Autosomal recessive inherited variants in SYNJ1 have previously been associated with two different neurological diseases: a recurrent homozygous missense variant (p.Arg258Gln) that abolishes Sac1 phosphatase activity was identified in three independent families with early onset parkinsonism, whereas a homozygous nonsense variant (p.Arg136*) causing a severe decrease of mRNA transcript was found in a single patient with intractable epilepsy and tau pathology.
|
27435091 |
2016 |
|
rs398122403
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Non-motor features and cardiac sympathetic innervation were assessed in two siblings affected by parkinsonism who harboured the homozygous Arg258Gln mutation in the SYNJ1 gene.
|
26725142 |
2016 |
|
rs398122403
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Whole-exome sequencing recently identified a homozygous truncating mutation in Synaptojanin 1 (SYNJ1, PARK20), p.Arg258Gln, in 2 independent families with autosomal recessive young-onset parkinsonism with seizures and cognitive decline.
|
26149920 |
2015 |
|
rs398122403
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p.Arg258Gln mutation.
|
24816432 |
2014 |
|
rs398122403
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Here, we report the identification, by homozygosity mapping and exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family with Parkinsonism, dystonia, and cognitive deterioration.
|
23804577 |
2013 |
|
rs63750424
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation.
|
29716656 |
2018 |
|
rs63750424
|
|
|
0.030 |
GeneticVariation |
BEFREE |
R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes.
|
29370822 |
2018 |
|
rs63751273
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS.
|
28268100 |
2017 |
|
rs33939927
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Further analysis of family members of the proband with the p.R1441G mutation revealed that her mother and first cousin shared the same mutation and parkinsonism.
|
24973808 |
2014 |
|
rs63750424
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The MAPT R406W mutation is associated with EOAD-like symptoms and parkinsonism without FTD, as well as distinct cognitive courses.
|
23727082 |
2014 |
|
rs63751273
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?
|
23121543 |
2014 |
|
rs4606
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Association analysis between functional polymorphism of the rs4606 SNP in the RGS2 gene and antipsychotic-induced Parkinsonism in Japanese patients with schizophrenia: results from the Juntendo University Schizophrenia Projects (JUSP).
|
19931593 |
2010 |
|
rs4606
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Lack of association between antipsychotic-induced Parkinsonism or its subsymptoms and rs4606 SNP of RGS2 gene in African-Caribbeans and the possible role of the medication: the Curacao extrapyramidal syndromes study X.
|
19156702 |
2009 |
|
rs33939927
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Clinically, p.R1441C carriers had typical levodopa-responsive parkinsonism with tremor as the most common presenting feature.
|
18197194 |
2008 |
|
rs33939927
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The distribution in age at onset and clinical features in Lrrk2 p.R1441C patients are similar to idiopathic and Lrrk2 p.G2019S parkinsonism.
|
18337586 |
2008 |
|
rs74315356
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In the present study we analysed fibroblasts from a patient carrying the homozygous mutation p.W437X in the PTEN-induced kinase 1 (PINK1), which manifested a very early onset parkinsonism.
|
18524835 |
2008 |
|
rs74315356
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In the present study mitochondrial respiratory function of fibroblasts from a patient affected by early-onset parkinsonism carrying the homozygous W437X nonsense mutation in the PINK1 gene has been thoroughly characterized.
|
18473170 |
2008 |
|
rs4606
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Five out of six single nucleotide polymorphisms within or flanking the RGS2 gene were nominally associated with development or worsening of parkinsonian symptoms (PARK+) as measured by the Simpson Angus Scale, one of them after correction for multiple testing (rs4606, P=0.002).
|
17558307 |
2007 |
|
rs74315356
|
|
|
0.030 |
GeneticVariation |
BEFREE |
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
|
16700027 |
2006 |
|
rs63751273
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Secondly, either of the two less prevalent genotypes observed in patient 2 may be the factor to modify the phenotype of P301L mutation into those unusual clinical features with prominent parkinsonism.
|
12111297 |
2002 |
|
rs121917763
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism.
|
10661862 |
1999 |
|
rs121917763
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Leu205Pro polymorphism is a rare mutation that is reported to cause Parkinsonism in infancy for individuals who are homozygous for the mutated type.
|
9613851 |
1998 |
|
rs121917763
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
|
8817341 |
1996 |
|
rs104893878
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Six α-synuclein (aSyn) point mutations are currently known to be associated with familial parkinsonism: A30P, E46K, H50Q, G51D, A53E, and A53T.
|
30605594 |
2019 |
|
rs886039227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy.
|
29499916 |
2018 |