Investigating how motor neurons contribute to premature death in spinocerebellar ataxia type 1

Who could benefit from this research

What this research studies

This project focuses on understanding why spinocerebellar ataxia type 1 causes not only cerebellar degeneration but also motor neuron dysfunction leading to weakness and respiratory failure. The researchers will study the pathways by which the ATXN1 polyQ protein harms motor neurons and contributes to premature death. Using patient-derived samples and animal or cellular models, they aim to identify distinct mechanisms in motor neurons compared to other affected cells. The goal is to uncover actionable targets that could later translate into therapies to extend life and improve function for SCA1 patients.

Why it matters

Where this research is happening

• 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.

• Motor neuron causes of weakness and breathing problems in spinocerebellar ataxia type 1

  Seeing if damage to motor neurons explains muscle weakness, trouble breathing and early death in people with spinocerebellar ataxia type 1.

  NIH research Baylor College of Medicine · Houston, United States · NIH-11169736

• 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.

  NIH research Baylor College of Medicine · Houston, United States · NIH-10914282

• 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.

  NIH research Rockefeller University · New York, United States · NIH-11605226

• 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.

  NIH research Northwestern University · Chicago, United States · NIH-11565549

• 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.

  NIH research Children's Hosp of Philadelphia · Philadelphia, United States · NIH-11494983

• 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.

  NIH research University of Michigan at Ann Arbor · Ann Arbor, United States · NIH-11437540

About this research

1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
3. For full project details, budget, and progress reports, visit the official NIH RePORTER page.