Parkinsonian Disorders
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0.200 |
GeneticVariation
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group |
BEFREE |
Mutations in FBXO7/PARK15 are associated with both sporadic Parkinson's disease and a severe form of autosomal recessive early-onset Parkinsonism.
|
31144295 |
2019 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
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group |
BEFREE |
Mutations in several autosomal genes, including the F-box only protein 7 (FBXO7) gene, have been found in patients suffering from juvenile-onset parkinsonism with pyramidal signs.
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29174172 |
2018 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
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group |
BEFREE |
We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3).
|
29124790 |
2017 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Recessive F-box protein 7 gene (FBXO7) mutations reportedly cause hereditary parkinsonism.
|
28341977 |
2017 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The F-box protein 7 (FBXO7) mutations have been identified in families with early-onset parkinsonism and pyramidal tract signs, and designated as PARK15.
|
27765362 |
2016 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
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 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.
|
25169713 |
2014 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in FBXO7 (PARK15) have been associated with a syndrome characterized by early-onset progressive parkinsonism with and without pyramidal tract signs.
|
24112787 |
2014 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the F-box protein 7 gene (FBXO7) have been identified to cause Parkinsonian-pyramidal syndrome, an autosomal recessive form of Parkinsonism.
|
24063688 |
2013 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the FBXO7 gene cause an autosomal-recessive early-onset parkinsonism with pyramidal tract signs.
|
23352116 |
2013 |
Parkinsonian Disorders
|
0.200 |
Biomarker
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group |
BEFREE |
Among them, PARK15 -associated parkinsonism, also referred to as parkinsonian-pyramidal disease (PPD), was found to be caused by mutations in the F-box only protein 7 gene (FBXO7).
|
23318512 |
2013 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
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group |
BEFREE |
Recessive mutations in the F-box only protein 7 gene (FBXO7) cause PARK15, a mendelian form of early-onset, levodopa-responsive parkinsonism with severe loss of nigrostriatal dopaminergic neurons.
|
23133663 |
2012 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in other genes, including ATP13A2 (PARK9), PLA2G6 (PARK14), and FBX07 (PARK15), cause more rare forms of recessive parkinsonism with very early-onset (<30 years) and usually additional, atypical features (pyramidal, dystonic, ocular movement, and cognitive disturbances).
|
22166450 |
2012 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the ATP13A2 (PARK9) and FBXO7 (PARK15) genes are linked to different forms of autosomal recessive juvenile-onset neurodegenerative diseases with overlapping phenotypes, including levodopa-responsive parkinsonism, pyramidal disturbances, cognitive decline, and supranuclear gaze disturbance.
|
20853184 |
2011 |
Parkinsonian Disorders
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In order to investigate the characteristics of FBXO7 gene mutations in Chinese early-onset Parkinsonism patients, we performed polymerase chain reaction and DNA direct sequencing on 135 patients and 200 controls.
|
20603184 |
2010 |
Parkinsonian Disorders
|
0.200 |
Biomarker
|
group |
BEFREE |
On careful review, we found the FBXO7 cases to have a phenotype more similar to PRKN gene associated parkinsonism.
|
20669327 |
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 |
Understanding how FBXO7 mutations cause disease will shed further light on the molecular mechanisms of neurodegeneration, with potential implications also for more common forms of parkinsonism, such as Parkinson disease and multiple system atrophy.
|
19038853 |
2009 |
Parkinsonian Disorders
|
0.200 |
Biomarker
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group |
HPO |
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