|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To the best of the authors' knowledge, this is the first report in Korea of familial parkinsonism with the parkin gene mutation.
|
12728478 |
2003 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Recessively inherited deletions/duplications and point mutations in the parkin gene are the most common cause of early-onset parkinsonism known so far, but in an increasing number of studies, genetic variations in the serine/threonine kinase domain of the PINK1 gene are found to explain early-onset parkinsonism.
|
19087301 |
2008 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
A recurrent mutation in PARK2 is associated with familial lung cancer.
|
25640678 |
2015 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
Mutations in the parkin gene are therefore not invariably associated with early onset parkinsonism.
|
10072423 |
1999 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families.
|
12548343 |
2002 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Using serial (18)F-dopa PET, the present longitudinal study addresses rates of progression of nigrostriatal dysfunction in both compound heterozygous (parkin-linked parkinsonism) and single heterozygous parkin gene carriers.
|
19845000 |
2009 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD.
|
11920285 |
2002 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
PINK1 (PTEN induced putative kinase 1) and PARKIN (also known as PARK2) have been identified as the causal genes responsible for hereditary recessive early-onset Parkinsonism.
|
24784582 |
2014 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Parkin, a gene implicated in autosomal recessive juvenile parkinsonism, is a candidate tumor suppressor gene on chromosome 6q25-q27.
|
12719539 |
2003 |
|
Parkinsonian Disorders
|
0.500 |
Therapeutic
|
group |
CTD_human |
A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism.
|
10894217 |
2000 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
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 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Autosomal recessive parkin (PARK2) gene-related parkinsonism may be phenotypically and pathophysiologically distinct from idiopathic Parkinson's disease (PD).
|
18759365 |
2008 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
PINK1 and PARKIN are causal genes for hereditary Parkinsonism.
|
23751051 |
2013 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the parkin gene are therefore not invariably associated with early onset parkinsonism.
|
10072423 |
1999 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We have investigated the presence of mutations in the parkin gene in patients with early-onset parkinsonism.
|
10899410 |
2000 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding parkin (PARK2) are the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism.
|
23459986 |
2013 |
|
Parkinsonian Disorders
|
0.500 |
Therapeutic
|
group |
CTD_human |
Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism.
|
23046578 |
2013 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Genetic screening reveals high frequency of PARK2 mutations and reduced Parkin expression conferring risk for Parkinsonism in North West India.
|
19734163 |
2010 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
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 |
|
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Linkage and haplotype analysis using markers in 6q25.2-27 indicated that Parkinsonism in the pedigrees is linked to the parkin gene (maximum LOD-score of 3.85) but that they carry two different mutant haplotypes.
|
11163284 |
2001 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Autosomal recessive mutations in the parkin gene (PARK2) have been identified as a common cause of familial and also sporadic, early-onset parkinsonism (EOPD): point mutations, exonic deletions, and duplications or triplications have been described.
|
17068781 |
2007 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Loss of function of the parkin gene (PRKN) is the predominant genetic cause of juvenile and early-onset parkinsonism in Japan, Europe, and the United States.
|
15642853 |
2005 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The authors report an Italian family with pseudo-dominant inheritance of parkinsonism attributable to parkin gene mutations.
|
11552035 |
2001 |
|
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.
|
15862897 |
2005 |