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Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PLA2G6-associated neurodegeneration (PLAN, NBIA2) is the second most common type of neurodegeneration with brain iron accumulation (NBIA), caused by recessive mutations of PLA2G6 gene, which encodes Ca<sup>2+</sup>-independent phospholipase A<sub>2</sub>β (iPLA<sub>2</sub>β).
|
30707893 |
2019 |
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Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Phospholipase A2-associated neurodegeneration (PLAN), a syndrome of Neurodegeneration with Brain Iron Accumulation (NBIA), is an autosomal recessive disorder caused by mutations in PLA2G6 gene.
|
28991683 |
2017 |
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Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Current study uncovered two rare novel mutations in PANK2 and PLA2G6 genes in patients with NBIA disorder and such studies may help to conduct genetic counseling and prenatal diagnosis more accurately for individuals at the high risk of these types of disorders.
|
28821231 |
2017 |
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Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in 10 genes have been associated with NBIA that include Ceruloplasmin (Cp) and ferritin light chain (FTL), both directly involved in iron homeostasis, as well as Pantothenate Kinase 2 (PANK2), Phospholipase A2 group 6 (PLA2G6), Fatty acid hydroxylase 2 (FA2H), Coenzyme A synthase (COASY), C19orf12, WDR45 and DCAF17 (C2orf37).
|
25870938 |
2016 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with brain iron accumulation (NBIA) disorders.
|
27516098 |
2016 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All had been clinically diagnosed, and the prevalence of genetic mutations linked to NBIA (PANK2 [exons 1-7], PLA2G6 [exons 2-17], C19orf12 [exons 1-3], WDR45 [exons 2-11], COASY [exons 1-9], FA2H [exons 1-7], and RAB39B [exons 1, 2]) was evaluated.
|
25744623 |
2015 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In a heterogeneous cohort of 69 patients with suspected NBIA that did not carry mutations in PANK2 and PLA2G6, the coding region of C19orf12 was evaluated by Sanger sequencing.
|
25592411 |
2015 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PLA2G6 have been proposed to be the cause of neurodegeneration with brain iron accumulation type 2.
|
26506412 |
2015 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Taken together, these clinical findings may be helpful in distinguishing PLA2G6-related neurodegeneration from the other major cause of NBIA, recessive PANK2 mutations.
|
24522175 |
2014 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PKAN and PLAN are autosomal recessive NBIA disorders due to mutations in PANK2 and PLA2G6, respectively.
|
24209433 |
2013 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the phospholipase A2 Group 6 (PLA2G6) gene have been identified in autosomal recessive neurodegenerative diseases classified as infantile neuroaxonal dystrophy and neurodegeneration with brain iron accumulation.
|
23182313 |
2013 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The 2 major types of neurodegeneration with brain iron accumulation (NBIA) are the pantothenate kinase type 2 (PANK2)-associated neurodegeneration (PKAN) and NBIA2 or infantile neuroaxonal dystrophy (INAD) due to mutations in the phospholipase A2, group VI (PLA2G6) gene.
|
20619503 |
2012 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PLA2G6 mutations and other rare causes of neurodegeneration with brain iron accumulation.
|
22515743 |
2012 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A number of autosomal recessive NBIA syndromes can present in childhood, most commonly pantothenate kinase-associated neurodegeneration (PKAN; due to mutations in the PANK2 gene) and phospholipase A2 group 6-associated neurodegeneration (PLAN; associated with genetic defects in PLA2G6).
|
21480873 |
2011 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Because of its role in the generation of reactive oxygen species and its association with neurodegeneration with brain iron accumulation, a possible involvement of calcium-independent group VI phospholipase A(2) (iPLA(2)-VI) in the pathogenesis of PD has been proposed.
|
21812034 |
2011 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All patients were screened for abnormalities in serum ceruloplasmin and ferritin levels and mutations in NBIA-associated genes [pantothenate kinase 2 (PANK2), PLA2G6 and ferritin light chain (exon 4)].
|
20629144 |
2010 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
Biomarker
|
disease |
BEFREE |
INAD/NBIA is caused by loss of the ability of PLA2G6 to catalyze fatty acid release from phospholipids, which predicts accumulation of PLA2G6 phospholipid substrates and provides a mechanistic explanation for the accumulation of membranes in neuroaxonal spheroids previously observed in histopathological studies of INAD/NBIA.
|
20886109 |
2010 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
Biomarker
|
disease |
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 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More recently, it was found that mutations in the PLA2G6 gene cause both infantile neuroaxonal dystrophy (INAD) and, more rarely, an atypical neuroaxonal dystrophy that overlaps clinically with other forms of NBIA.
|
18981035 |
2009 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PLA2G6 mutations are associated with infantile neuroaxonal dystrophy and have been reported previously to cause early cerebellar signs, and the syndrome was classified as neurodegeneration with brain iron accumulation (type 2).
|
18570303 |
2009 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PLA2G6 mutations are known to be responsible for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA).
|
19087156 |
2009 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Eighty percent of patients with INAD had mutations in PLA2G6, whereas mutations were found in only 20% of those with idiopathic NBIA.
|
18799783 |
2008 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome.
|
16783378 |
2006 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy (MIM 606159, also labeled hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2, NBIA2) is an adult-onset progressive movement disorder caused by mutations in the ferritin light chain gene (FTL1).
|
17101456 |
2006 |