|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
PRKRA is not an unusual cause of idiopathic dystonia.
|
29279192 |
2018 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Considering also that another dystonia, DYT16, involves a gene upstream of the eIF2α pathway, these results mechanistically link multiple forms of dystonia and put forth a new overall cellular mechanism for dystonia pathogenesis, impairment of eIF2α signaling, a pathway known for its roles in cellular stress responses and synaptic plasticity.
|
27939583 |
2016 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women.
|
25643588 |
2015 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT.
|
26231208 |
2015 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
The clinical presentation with young-onset, progressive generalized dystonia and mild parkinsonism resembled the phenotype of the original DYT16 cases.
|
25142429 |
2014 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism.
|
22842711 |
2012 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Recently, a novel form of dystonia-parkinsonism (DYT16) has been found to be linked to mutations in the PRKRA gene, whose relation to basal ganglia disorders is yet unknown .
|
20590807 |
2010 |
|
Dystonia Disorders
|
0.400 |
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 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Because different mutations in the same gene can result in diverse phenotypes, we sequenced all coding exons of the DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 genes in 44 CRPS patients with fixed dystonia to investigate whether high-penetrant causal mutations play a role in CRPS.
|
20066431 |
2010 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
DYT16 dystonia is a novel recessive form of EO-PD, recently described in few patients, caused by mutations in the PRKRA gene located at chromosome 2q31.
|
19157930 |
2009 |
|
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
CTD_human |
We describe a mutation within the gene PRKRA that segregates with a novel, autosomal recessive, dystonia parkinsonism syndrome.
|
18243799 |
2008 |
|
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We describe a mutation within the gene PRKRA that segregates with a novel, autosomal recessive, dystonia parkinsonism syndrome.
|
18243799 |
2008 |