ReviewParkinsonism & related disorders2012
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
Review in Parkinsonism & related disorders, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
What it found
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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
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- The Efficacy and Predictors of Using GPi-DBS to Treat Early-Onset Dystonia: An Individual Patient Analysis.Neural plasticity · 2021Pooled it
- Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review.Neurogenetics · 2026Review
- Neuropathology in genetic Parkinson's disease: a focused review of pathological and clinical findings.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Expanding the phenotypic spectrum of THAP1 dystonia: a scoping review with an illustrative case of late-onset focal limb dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.Nature communications · 2025Article
- DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.Neurogenetics · 2024Article
- Article
- What Is Hemidystonia?Movement disorders clinical practice · 2023Article
- Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.Seminars in neurology · 2023Article
- Article
- The Patho-Neurophysiological Basis and Treatment of Focal Laryngeal Dystonia: A Narrative Review and Two Case Reports Applying TMS over the Laryngeal Motor Cortex.Journal of clinical medicine · 2022Review
- Tremor in Primary Monogenic Dystonia.Current neurology and neuroscience reports · 2021Review
- Divergent and self-reactive immune responses in the CNS of COVID-19 patients with neurological symptoms.Cell reports. Medicine · 2021Article
- Article
- Isolated dystonia: clinical and genetic updates.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.The Journal of physiology · 2021Article
- Article
- Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.Journal of molecular neuroscience : MN · 2020Article
- Article
- Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.Journal of clinical medicine · 2019Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 4 countries.
Funding
Abstract
An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of onset ranging from 3 to over 60 years. In previous work, we screened 1114 subjects with mainly adult-onset primary dystonia (Neurology 2010; 74:229-238) and identified 6 missense mutations in THAP1. For this report, we screened 750 additional subjects for mutations in coding regions of THAP1 and interrogated all published descriptions of THAP1 phenotypes (gender, age of onset, anatomical distribution of dystonia, family history and site of onset) to explore the possibility of THAP1 genotype-phenotype correlations and facilitate a deeper understanding of THAP1 pathobiology. We identified 5 additional missense mutations in THAP1 (p.A7D, p.K16E, p.S21C, p.R29Q, and p.I80V). Three of these variants are associated with appendicular tremors, which were an isolated or presenting sign in some of the affected subjects. Abductor laryngeal dystonia and mild blepharospasm can be manifestations of THAP1 mutations in some individuals. Overall, mean age of onset for THAP1 dystonia is 16.8 years and the most common sites of onset are the arm and neck, and the most frequently affected anatomical site is the neck. In addition, over half of patients exhibit either cranial or laryngeal involvement. Protein truncating mutations and missense mutations within the THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1.
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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.