Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We report a case of a 51-year-old male DYT-THAP1 mutation carrier with dystonia, who additionally developed ataxia 1.5 years ago.
|
31367947 |
2019 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are lacking.
|
31817799 |
2019 |
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
However, THAP1 downstream targets in neurons, and the mechanism via which it causes dystonia are largely unknown.
|
29364887 |
2018 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
These lines provide a valuable resource for studying the impact of THAP1 mutations on the pathology of dystonia.
|
30316041 |
2018 |
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance.
|
29396174 |
2018 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our goal was to characterize patients with inherited and isolated dystonia and determine the frequency of mutations responsible for DYT1 and DYT6 in Brazilian patients.
|
26940431 |
2017 |
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.
|
28697333 |
2017 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Thanatos-associated protein domain containing, apoptosis-associated protein 1 (THAP1), the gene mutated in DYT6 dystonia, encodes a transcription factor.
|
28486698 |
2017 |
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
|
28299530 |
2017 |
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
THAP1 downstream targets and the mechanism via which it causes dystonia are largely unknown.
|
28579396 |
2017 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A total of three nucleotide variants were detected, which include a reported missense mutation (c.427 A>G; p.Met143Val) in a juvenile onset generalized dystonia patient, a novel frameshift deletion mutation (c.208-209 ΔAA; p.K70VfsX15) in a juvenile onset cervical dystonia patient and a rare variant in 3' UTR of THAP1 (c.*157 T>C) in an adult-onset blepharospasm patient.
|
27913194 |
2017 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6).
|
26610312 |
2016 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
GNAL mutations are not a common cause of dystonia in the Brazilian population and have a lower prevalence than THAP1 and TOR1A mutations.
|
26810727 |
2016 |
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Moreover, in the absence of family history and strong in silico or in vitro evidence of deleteriousness, the pathogenicity of novel SVs in THAP1 and other dystonia-associated genes can be indeterminate.
|
26944167 |
2016 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our findings strongly suggest the role of other genetic factors or environmental triggers in the pathogenesis of dystonia related to mutations in THAP1 gene.
|
25385508 |
2015 |
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Therefore, a previously proposed association between this substitution and DYT6 dystonia seems unlikely.
|
26087139 |
2015 |
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Overall, our observation supports pallidal DBS as an important treatment option in patients with DYT6 dystonia.
|
26486352 |
2015 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Carriers were less likely to have dystonia restricted to a single site (11.11% in carriers vs. 65.9% in noncarriers; P < 0.01) and were less likely to have dystonia onset in cervical regions (25.9% of THAP1 carriers vs. 52.5% of noncarriers; P = 0.04).
|
24500857 |
2014 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Therefore, THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history.
|
24976531 |
2014 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
He was diagnosed as having DYT6 dystonia with mutations in the THAP1 gene.
|
25359437 |
2014 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).
|
25155315 |
2014 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The deletion of THAP1 in addition to SLC20A2 in the Canadian IBGC family may contribute to the severe and early onset dystonia in this family.
|
24135862 |
2014 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Notably, mutations in both of these genes lead to dystonia (DYT6 or DYT1).
|
25088175 |
2014 |
Dystonia Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-exome sequencing identified a GNAL missense mutation (c.682G>T, p.V228F) in an African-American pedigree with clinical phenotypes that include cervical, laryngeal and hand-forearm dystonia.
|
23449625 |
2013 |
Dystonia Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Dystonias with known genes include DYT1 and DYT6 dystonia, presenting as isolated torsion dystonia, as well as DYT5 (dopa-responsive dystonia), DYT11 (myoclonus-dystonia), and DYT12 (rapid-onset dystonia-parkinsonism), where dystonia occurs in conjunction with other types of movement disorders.
|
23622412 |
2013 |