Dystonia
|
0.600 |
Biomarker
|
phenotype |
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
|
0.600 |
Biomarker
|
phenotype |
CTD_human |
|
|
|
Dystonia
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia.
|
25142429 |
2014 |
Dystonia
|
0.600 |
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
|
0.600 |
GeneticVariation
|
phenotype |
LHGDN |
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
|
18420150 |
2008 |
Dystonia
|
0.600 |
GeneticVariation
|
phenotype |
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
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
PRKRA is not an unusual cause of idiopathic dystonia.
|
29279192 |
2018 |
Dystonia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18].
|
23893446 |
2013 |
Dystonia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
We describe a mutation within the gene PRKRA that segregates with a novel, autosomal recessive, dystonia parkinsonism syndrome.
|
18243799 |
2008 |
Dystonia
|
0.600 |
GeneticVariation
|
phenotype |
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
|
0.600 |
GeneticVariation
|
phenotype |
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
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism.
|
22842711 |
2012 |
Dystonia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
The clinical presentation with young-onset, progressive generalized dystonia and mild parkinsonism resembled the phenotype of the original DYT16 cases.
|
25142429 |
2014 |
Dystonia
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
|
26990861 |
2016 |
Dystonia
|
0.600 |
Biomarker
|
phenotype |
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
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
PRKRA mutational screening in additional dystonia samples revealed three novel heterozygous changes (p.Thr34Ser, p.Asn102Ser, c.-14A>G), each in a single subject with focal/segmental dystonia.
|
25142429 |
2014 |
Dystonia
|
0.600 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
|
25914261 |
2015 |
Dystonia
|
0.600 |
Biomarker
|
phenotype |
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 |