Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.
|
31843010 |
2019 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Although parkinsonism is more frequent in POLG1 mutations, and myoclonus in MERFF, most movement disorders are found either isolated or combined in numerous MIDs.
|
27476418 |
2017 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Parkinsonism was the most prevalent extrapyramidal movement disorder in adults and was commonly associated with POLG mutations; dystonia was predominantly associated with mitochondrial DNA mutations.
|
27111573 |
2016 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
We review the genotypic and phenotypic spectrum of POLG1-related parkinsonism.
|
25203713 |
2014 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
This report further expands the spectrum of POLG1-associated neurologic problems with the report of a novel mutation in the linker region of the gene, which are rarely associated with parkinsonism.
|
23865558 |
2013 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
Parkinsonism has to be investigated in patients with PEO with analysis of Twinkle mutation.
|
24076137 |
2013 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our results suggest that 3-T neuromelanin MRI may be useful for differentiating POLG1 mutation-associated parkinsonism from iPD, and that POLG1 mutations may cause selective neuronal loss in the SN via a mechanism different from that of iPD.
|
23673011 |
2013 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Association of mitochondrial DNA polymerase γ gene POLG1 polymorphisms with parkinsonism in Chinese populations.
|
23251356 |
2012 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism.
|
21301859 |
2011 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
In this article, we do not revise the mitochondrial hypothesis of sporadic, idiopathic Parkinson disease, extensively discussed elsewhere, but we review POLG1-related parkinsonism and other well-defined forms of "mitochondrial parkinsonisms", with mtDNA mutations or rearrangements.
|
21221844 |
2011 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
First, POLG1 missense mutations have been found in patients with familial parkinsonism and mitochondrial myopathy.
|
20399836 |
2010 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Here we report two novel mutations in POLG1 in a compound heterozygous patient with autosomal recessive PEO, followed by pseudo-orthostatic tremor evolving into levodopa-responsive parkinsonism.
|
18502641 |
2008 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
Alpers syndrome with prominent white matter changes.
|
17923349 |
2008 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Here we report two novel mutations in POLG1 in a compound heterozygous patient with autosomal recessive PEO, followed by pseudo-orthostatic tremor evolving into levodopa-responsive parkinsonism.
|
18502641 |
2008 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.
|
18321754 |
2008 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
|
17420318 |
2007 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
|
17420318 |
2007 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Collectively, these results offer a biochemical link between the observed oxidative stress in model systems and parkinsonism in patients, suggesting that patients harboring the Y955C POLG mutation may undergo enhanced oxidative stress and DNA mutagenesis.
|
17725985 |
2007 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
|
16595552 |
2006 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.
|
16943369 |
2006 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.
|
16943369 |
2006 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
POLG mutations can cause early-onset parkinsonism in the absence of progressive external ophthalmoplegia.
|
16634032 |
2006 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Clinically, POLG mutations can present from early neonatal life to late middle age, with a spectrum of phenotypes that includes common neurological disorders such as migraine, epilepsy and Parkinsonism.
|
16987890 |
2006 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
|
15351195 |
2004 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|