|
rs886039227
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel heterozygous mutation, DCTN1 c.156T>G, encoding p.Phe52Leu, segregates with parkinsonism in a Japanese family.
|
24676999 |
2014 |
|
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 |
|
rs80338892
|
|
|
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 |
|
rs781652026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T).
|
17420318 |
2007 |
|
rs781442277
|
|
|
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 |
|
rs775809722
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism.
|
18286320 |
2008 |
|
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 |
|
rs774005786
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study we show that three different Parkinsonism-associated DJ-1 missense mutations (A104T, E163K, and M26I) reduce the thermal stability of DJ-1 in solution by subtly perturbing the structure of DJ-1 without causing major folding defects or loss of dimerization.
|
18181649 |
2008 |
|
rs772784579
|
|
|
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 |
|
rs76763715
|
|
|
0.020 |
GeneticVariation |
BEFREE |
GBA1 heterozygotes with non-N370S</span> mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations.
|
22968580 |
2013 |
|
rs76763715
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families.
|
27777137 |
2016 |
|
rs767543900
|
|
|
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 |
|
rs762999184
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of the non-synonymous SNVs that were not shared between the two family members revealed non-synonymous SNVs related to parkinsonism including a novel heterozygous mutation (p.T44N) in FBX07 (PARK15) only in the proband, and non-synonymous SNVs related to neurodegeneration with brain iron accumulation in the affected brother.
|
25634434 |
2015 |
|
rs762472005
|
|
|
0.020 |
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 |
|
rs762472005
|
|
|
0.020 |
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 |
|
rs761807915
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Parkinsonism with dopa-sensitivity and a correlating DaTSCAN turned out to be due to a D202N mutation which is associated with the Gerstmann-Sträussler-Scheinker (GSS) disease.
|
23436635 |
2013 |
|
rs758414077
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis.
|
16116125 |
2005 |
|
rs757199733
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The P88L mutation additionally featured early myoclonus followed by Parkinsonism.
|
28550247 |
2017 |
|
rs756677845
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs752804472
|
|
|
0.010 |
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 |
|
rs752078407
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous for p.N404I showed Parkinsonism, tics and personality and speech disorders.
|
24712887 |
2015 |
|
rs748705829
|
|
|
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 |
|
rs74315414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We detected a novel mutation at codon 105 of PRNP that results in a serine (S) substitution of proline (P) (P105S), in a young woman who developed progressive aphasia, behavioral changes, dementia, and parkinsonism, lasting 10 years to her death.
|
18955686 |
2008 |
|
rs74315360
|
|
|
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 |
|
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 |