Why brain cells cause movement and coordination problems
Official title: Understanding the Cellular Basis of Movement Disorders
Funded at Northwestern University · NIH-11237574 · Data updated 2026-11-12
Learning how a faulty ATXN1 gene in people with spinocerebellar ataxia type 1 damages cerebellar brain cells and leads to adult-onset balance and coordination problems.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | August 17, 2013 |
| Project end | November 30, 2029 |
| Funding year | 2026 |
| Award (this year) | $635,901 |
| NIH project number | 5R01NS082351-12 |
| Project ID | NIH-11237574 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults diagnosed with spinocerebellar ataxia type 1 or known carriers of the ATXN1 mutation would be the most relevant to this work.
✕Less likely to help
People with other forms of ataxia or unrelated movement disorders may not see direct benefit from this specific SCA1-focused research.
What this research studies
This project uses mouse models carrying the human ATXN1 mutation to study early changes in the cerebellum that later cause ataxia. Researchers focus on Purkinje neurons and supporting cells to track changes in gene activity, protein handling, and neurogenesis, including reduced levels of the growth factor VEGF. They combine molecular lab experiments, cell studies, and comparisons to human disease biology to understand why symptoms start in adulthood and begin in the cerebellum. Learning these steps may point to ways to protect vulnerable neurons or boost factors that keep them healthy.
Why it matters
Potential benefit: Could identify molecular targets or protective factors that lead to treatments to slow or prevent cerebellar degeneration in SCA1.
How similar studies have gone: Related work in SCA1 mouse models has repeatedly shown early gene changes and Purkinje cell vulnerability, but converting those findings into effective human therapies has not yet been achieved.
Where this research is happening
-
Northwestern University
Chicago, United States Active
Researchers
- Principal investigator: Opal, Puneet — Northwestern University
- Study coordinator: Opal, Puneet
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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.