Parkinsonian Disorders
|
0.480 |
Biomarker
|
group |
BEFREE |
DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism.
|
29279192 |
2018 |
Parkinsonian Disorders
|
0.480 |
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 |
Parkinsonian Disorders
|
0.480 |
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 |
Parkinsonian Disorders
|
0.480 |
GeneticVariation
|
group |
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 |
Parkinsonian Disorders
|
0.480 |
Biomarker
|
group |
BEFREE |
DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism.
|
22842711 |
2012 |
Parkinsonian Disorders
|
0.480 |
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 |
Parkinsonian Disorders
|
0.480 |
GeneticVariation
|
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 |
Parkinsonian Disorders
|
0.480 |
GeneticVariation
|
group |
BEFREE |
We describe a mutation within the gene PRKRA that segregates with a novel, autosomal recessive, dystonia parkinsonism syndrome.
|
18243799 |
2008 |
Parkinsonian Disorders
|
0.480 |
Biomarker
|
group |
CTD_human |
We describe a mutation within the gene PRKRA that segregates with a novel, autosomal recessive, dystonia parkinsonism syndrome.
|
18243799 |
2008 |
Parkinsonian Disorders
|
0.480 |
Biomarker
|
group |
HPO |
|
|
|