|
DYSTONIA 16 (disorder)
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.
|
31246344 |
2019 |
|
DYSTONIA 16 (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
|
26990861 |
2016 |
|
DYSTONIA 16 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
|
26990861 |
2016 |
|
DYSTONIA 16 (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
|
25914261 |
2015 |
|
DYSTONIA 16 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.
|
26231208 |
2015 |
|
DYSTONIA 16 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
|
25142429 |
2014 |
|
DYSTONIA 16 (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
|
25142429 |
2014 |
|
DYSTONIA 16 (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
|
25142429 |
2014 |
|
DYSTONIA 16 (disorder)
|
0.720 |
GeneticVariation
|
disease |
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 16 (disorder)
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
|
18243799 |
2008 |
|
DYSTONIA 16 (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
|
18420150 |
2008 |
|
DYSTONIA 16 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
|
18243799 |
2008 |
|
DYSTONIA 16 (disorder)
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
|
18420150 |
2008 |
|
DYSTONIA 16 (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
|
18243799 |
2008 |
|
Dystonia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
PRKRA is not an unusual cause of idiopathic dystonia.
|
29279192 |
2018 |
|
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 |
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
|
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 |
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 |
GENOMICS_ENGLAND |
Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
|
25914261 |
2015 |
|
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 |
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 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 |
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 |
Biomarker
|
phenotype |
BEFREE |
DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism.
|
22842711 |
2012 |