THAP1 function has not been fully characterized.

Torsion dystonia 6 is associated with mutations in the THAP1 gene on chromosome 8.

Genetic testing for THAP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for torsion dystonia 6 has been reported in the published literature.

Phenotype severity distribution: 1 very common feature, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

9 publications have been identified in PubMed for torsion dystonia 6. Research spans Basic Science / Preclinical (33%), Diagnostic / Biomarker (22%), and Review / Meta-Analysis (22%).

Recent Publications

• Carvalho V (2026). [PMID: 42202611](https://pubmed.ncbi.nlm.nih.gov/42202611/). *Parkinsonism Relat Disord*. [Diagnostic / Biomarker]

• Kaymak A (2025). [PMID: 40062447](https://pubmed.ncbi.nlm.nih.gov/40062447/). *European journal of neurology*. [Diagnostic / Biomarker]

• Saini A (2025). [PMID: 39749944](https://pubmed.ncbi.nlm.nih.gov/39749944/). *Movement disorders clinical practice*. [Basic Science / Preclinical]

• Calakos N (2025). [PMID: 39467044](https://pubmed.ncbi.nlm.nih.gov/39467044/). *Movement disorders : official journal of the Movement Disorder Society*. [Review / Meta-Analysis]

• Thomsen M (2025). [PMID: 40533913](https://pubmed.ncbi.nlm.nih.gov/40533913/). *Annals of clinical and translational neurology*. [Epidemiology / Natural History]

• Mouraux C (2025). [PMID: 39887664](https://pubmed.ncbi.nlm.nih.gov/39887664/). *Movement disorders clinical practice*. [Gene Therapy / Novel Therapeutics]

• Reinhold C (2025). [PMID: 39732371](https://pubmed.ncbi.nlm.nih.gov/39732371/). *Neurobiology of disease*. [Review / Meta-Analysis]

• Wu R (2024). [PMID: 38845987](https://pubmed.ncbi.nlm.nih.gov/38845987/). *Heliyon*. [Basic Science / Preclinical]

• Thomsen M (2024). [PMID: 39677454](https://pubmed.ncbi.nlm.nih.gov/39677454/). *medRxiv : the preprint server for health sciences*. [Basic Science / Preclinical]