Where and when dystonia starts in the developing brain
Spatial and temporal pathophysiology of developmental dystonia
This project explores how early brain changes lead to developmental dystonia to help children and others with early-onset dystonia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11307130 on NIH RePORTER |
What this research studies
Researchers use a genetic mouse model that turns off the En1 gene to recreate features of developmental dystonia and then map which brain regions and circuits change during embryonic and early postnatal life. They combine anatomical mapping, electrophysiology, and functional studies to follow spatial and temporal changes in the cerebellum and basal ganglia. Results will be compared to known adult circuit abnormalities and to outcomes from deep brain stimulation in adults. The aim is to pinpoint when and where pathological changes begin so future treatments can be timed and targeted more effectively.
Who could benefit from this research
Good fit: Children and adults with early-onset or developmental forms of dystonia could be eventual candidates for clinical trials or treatments informed by these findings.
Not a fit: People whose dystonia began in adulthood from medication side effects or other non-developmental causes may not directly benefit from this developmental-focused work.
Why it matters
Potential benefit: If successful, this work could reveal the timing and brain targets of developmental dystonia, guiding earlier or better-targeted therapies for children.
How similar studies have performed: Circuit-mapping and deep brain stimulation have helped adults with dystonia, but using En1-based mouse models to map embryonic and early postnatal origins is relatively novel.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Sillitoe, Roy Vincent — Baylor College of Medicine
- Study coordinator: Sillitoe, Roy Vincent
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.