ReviewMovement disorders : official journal of the Movement Disorder Society2012
THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Review in Movement disorders : official journal of the Movement Disorder Society, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm.Neuromolecular medicine · 2019Pooled it
- Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review.Neurogenetics · 2026Review
- Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa-Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Rare Movement Disorders-An Approach for Clinicians.International journal of molecular sciences · 2025Review
- DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.Neurogenetics · 2024Article
- Isolated Cervical Dystonia: Diagnosis and Classification.Movement disorders : official journal of the Movement Disorder Society · 2023Review
- GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature.Frontiers in neurology · 2023Article
- Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes inMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Tremor in Primary Monogenic Dystonia.Current neurology and neuroscience reports · 2021Review
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- DYT6 Dystonia Mimicking Adolescent Idiopathic Scoliosis Successfully Treated by Pallidal Stimulation.International medical case reports journal · 2021Article
- Absence of Long Noncoding RNA H19 Promotes Childhood Nephrotic Syndrome through Inhibiting ADCK4 Signal.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- Article
- Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.Journal of molecular neuroscience : MN · 2019Article
- [The new tremor classification of the International Parkinson and Movement Disorder Society : Update on frequent tremors].Der Nervenarzt · 2018Review
- Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.PLoS genetics · 2018Article
- Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society.Movement disorders : official journal of the Movement Disorder Society · 2018Review
- Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Review
- THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation.Stem cell reports · 2017Article
- Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
Abstract
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations. © 2012 Movement Disorder Society.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.