Dystonia
|
0.490 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dystonia
|
0.490 |
GeneticVariation
|
phenotype |
LHGDN |
Clinicians should be aware that patients carrying a parkin gene mutation may present with dystonia-parkinsonism or very subtle parkinsonism with a markedly varied age of onset.
|
12815654 |
2003 |
Dystonia
|
0.490 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
|
22956510 |
2012 |
Dystonia
|
0.490 |
GeneticVariation
|
phenotype |
LHGDN |
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
|
18554280 |
2008 |
Dystonia
|
0.490 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
|
9560156 |
1998 |
Dystonia
|
0.490 |
GeneticVariation
|
phenotype |
BEFREE |
Herein, we investigated the frequency of GCH1 mutations in a series of 53 familial EOPD patients (21 with dystonia) and screened them for mutations in PRKN, PINK1, and DJ-1.
|
19735094 |
2009 |
Dystonia
|
0.490 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, we described a new PARKIN truncating mutation associated with an early onset parkinsonism, and the presence of foot dystonia as the initial symptom.
|
11684352 |
2001 |
Dystonia
|
0.490 |
Biomarker
|
phenotype |
BEFREE |
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2) is characterized by an early onset parkinsonism, often presenting with dystonia as an early feature.
|
15635662 |
2005 |
Dystonia
|
0.490 |
GeneticVariation
|
phenotype |
BEFREE |
We report a novel heterozygous 40 base pair deletion in exon 3 of the parkin gene that increases the susceptibility of carriers to develop parkinsonism/dystonia and manifests remarkable variability in regard to age of onset and phenotype in a single family.
|
12815654 |
2003 |
Dystonia
|
0.490 |
Biomarker
|
phenotype |
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 |
Dystonia
|
0.490 |
GeneticVariation
|
phenotype |
BEFREE |
Dystonia at onset was present in two patients with parkin gene mutations.
|
12397156 |
2002 |
Dystonia
|
0.490 |
GeneticVariation
|
phenotype |
BEFREE |
Excluding PRKN (parkin) mutations, >90% of the presenting phenotypes have a complex or atypical presentation, with dystonia, abnormal cognition, pyramidal signs, neuropsychiatric disorders, abnormal imaging and abnormal eye movements being the most common features.
|
31800013 |
2020 |
Dystonia
|
0.490 |
GeneticVariation
|
phenotype |
LHGDN |
How much phenotypic variation can be attributed to parkin genotype?
|
12891670 |
2003 |