|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Cerebellar abnormalities may be a marker for diagnosis and evaluation of PLA2G6 mutation Parkinsonism.
|
31496990 |
2019 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Thirty of the 324 patients with early-onset parkinsonism (9.3%) were found to carry mutations in Parkin, PINK1, or PLA2G6 or had increased trinucleotide repeats in SCA8.
|
30788857 |
2019 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Arachidonic acid is released by phospholipase A2 activity and clinical observations have shown a link between mutations in PLA2G6, the gene responsible for the production of phospholipase A2, and early-onset types of parkinsonism.
|
29577851 |
2018 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain.
|
29909971 |
2018 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
To accomplish this, we downregulated the function of pla2g6 in the zebrafish nervous system, performed parkinsonism-related phenotypic characterization, and determined the effects of gene regulation upon the loss of pla2g6 function by using RNA sequencing and downstream analyses.
|
29344929 |
2018 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
PLA2G6 sequencing has to be considered facing a patient with adulthood parkinsonism, especially when it is associated with initial psychiatric symptoms.
|
29916839 |
2018 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
Our results suggest that CNV in PLA2G6 is rare in parkinsonism, at least in the Japanese population, in contrast to the reports of its frequency in INAD.
|
27942883 |
2017 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
Phospholipase A<sub>2</sub>, group VI (PLA2G6) is the causative gene for PARK14-linked parkinsonism (PARK14), a familial form of juvenile-onset dystonia parkinsonism.
|
28213071 |
2017 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
PLAN syndrome encompasses a group of phenotypes with a different age of onset: classic infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy of childhood-onset (atypical NAD) and adult-onset PLA2G6-related dystonia-parkinsonism (PARK14).
|
28991683 |
2017 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Neuropathological examination revealed widespread Lewy body pathology and the accumulation of hyperphosphorylated tau, supporting a link between PLA2G6 mutations and parkinsonian disorders.
|
26001724 |
2015 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In order to investigate the characteristics of PLA2G6 gene mutations in Chinese sporadic early-onset parkinsonism (EOP) patients, we performed polymerase chain reaction and DNA direct sequencing on a cohort of sporadic EOP patients from Chinese population.
|
22406380 |
2012 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.
|
22213678 |
2012 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
The clinical and neuropathological features clearly represent a link between PLA2G6 and parkinsonian disorders.
|
20619503 |
2012 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort.
|
21700586 |
2011 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
To clarify the role of PLA2G6 mutation in parkinsonism, we conducted mutation analysis in 29 selected patients with very early-onset (≤ 30, mean 21.2 ± 8.4 years, ± SD) parkinsonism.
|
20938027 |
2010 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter.
|
20694531 |
2010 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.
|
19087156 |
2009 |
|
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Characterization of PLA2G6 as a locus for dystonia-parkinsonism.
|
18570303 |
2009 |
|
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|