Motor neuron causes of weakness and breathing problems in spinocerebellar ataxia type 1
Official title: Investigating Motor Neuron Disease in Spinocerebellar Ataxia, Type1
Funded at Baylor College of Medicine · NIH-11169736 · Data updated 2026-11-12
Seeing if damage to motor neurons explains muscle weakness, trouble breathing and early death in people with spinocerebellar ataxia type 1.
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 start | September 1, 2023 |
| Project end | August 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $524,494 |
| NIH project number | 5R01NS129610-03 |
| Project ID | NIH-11169736 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with a confirmed diagnosis of SCA1 (ATXN1 polyglutamine expansion), especially those experiencing muscle weakness, swallowing or breathing problems, or those willing to donate clinical samples, would be most relevant.
✕Less likely to help
People without SCA1 or those with other forms of ataxia or advanced disease unlikely to change outcomes in the near term may not directly benefit from this project.
What this research studies
The team at Baylor will focus on motor neurons to understand why people with SCA1 develop muscle wasting, breathing difficulties, and premature death. They will use lab models that carry the mutant ATXN1 protein and examine motor neuron health, protein aggregates, and molecular signaling linked to neuron loss. The researchers will compare findings from models with available human-derived samples when possible, and measure effects on muscle function and breathing-related tissues. Their goal is to pinpoint mechanisms in motor neurons that differ from the cerebellar problems already studied, to guide future treatments.
Why it matters
Potential benefit: If successful, this work could point to new ways to prevent or treat muscle weakness and respiratory failure in SCA1, potentially improving survival and quality of life.
How similar studies have gone: Prior research has identified cerebellar mechanisms in SCA1, but focusing on motor neurons is a newer approach, with some related motor neuron research in other diseases showing promising leads.
Where this research is happening
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Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Orengo, James P — Baylor College of Medicine
- Study coordinator: Orengo, James P
Related research
Other NIH-funded projects on the same topics.
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Investigating how motor neurons contribute to premature death in spinocerebellar ataxia type 1
A study at Baylor College of Medicine is exploring why people with spinocerebellar ataxia type 1 also develop muscle weakness and breathing problems, and how motor neurons are involved.
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Understanding how motor neuron disease affects patients with Spinocerebellar Ataxia Type 1
This study is looking at how nerve cells that control movement are affected in people with Spinocerebellar Ataxia Type 1 (SCA1) to better understand the disease and find new ways to help improve symptoms like muscle weakness and coordination problems.
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Modeling Ataxia Telangiectasia in a human stem cell model of Purkinje cells
Researchers are creating a patient-derived, human cell model of Purkinje cells to understand why this brain disease causes cerebellar degeneration in people with Ataxia Telangiectasia.
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VEGF-mimetic nanoparticles to help spinocerebellar ataxia type 1
A new, patient-friendly approach is being developed to deliver a VEGF-like therapy using tiny particles that could protect brain cells in spinocerebellar ataxia type 1.
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Understanding early Friedreich ataxia in children to improve how we measure outcomes
This study looks at how Friedreich ataxia starts and progresses in kids to create better, child-friendly measures for tracking the disease and testing treatments.
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Targeting FICD to Help Spinocerebellar Ataxia Type 3 (SCA3)
A brain-focused project tests whether blocking FICD, a protein in cells’ ER quality system, can slow or prevent damage in people (via animal and cell studies) who have spinocerebellar ataxia type 3.
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.