Targeted gene under study

NKX2-1 (OMIM*600635) 


NKX2-1-related disorders (OMIM#610978), characterized by chorea, typically manifest in early infancy, late childhood, or adolescence, and may stabilize or remit during the second decade. The disease progression varies significantly among patients. Additionally, patients often present with congenital hypothyroidism and various forms of pulmonary involvement, ranging from neonatal respiratory distress syndrome to interstitial lung disease. 

The optimal treatment approach for NKX2-1-related disorders remains undefined on a global scale, leading to an understanding primarily based on isolated clinical cases and small observational studies. Despite reports on over 300 patients, a comprehensive systematic approach to grasp this disorder’s full spectrum is lacking, creating a significant knowledge gap. 

To bridge this gap, we have taken proactive measures by gathering comprehensive clinical data, brain MRI images, and videos of patients. These valuable data will be meticulously evaluated by movement disorders specialists, and genetic information, including segregation analysis, will also be integrated. To facilitate this process, we have established a dedicated database on RedCap, where we are systematically collecting and organizing this essential information. If you are open to collaborating with us, kindly reach out, and we will provide you access to our RedCap database.

Coordinating clinicians/researchers

Juan Darío Ortigoza-Escobar, MD, PhD  –  

Laia Nou-Fontanet, MD. –  


Hospital Sant Joan de Déu, Barcelona, Spain

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: No