How Ataxia Telangiectasia harms the cerebellum
Official title: Defining cerebellar pathophysiology in Ataxia Telangiectasia
Funded at Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center · NIH-11262941 · Data updated 2026-11-12
Researchers are looking at whether losing two DNA-repair proteins causes the cerebellum damage that leads to ataxia in children and young adults with Ataxia Telangiectasia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center NIH-funded |
| Lab location | 1 site (Torrance, United States) |
| Project start | January 15, 2024 |
| Project end | December 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $679,607 |
| NIH project number | 5R01NS131646-03 |
| Project ID | NIH-11262941 on NIH RePORTER |
Who could benefit from this research
✓Could help
This research is most relevant to children and young adults diagnosed with Ataxia Telangiectasia and their families.
✕Less likely to help
People with other forms of ataxia or unrelated neurologic conditions are unlikely to benefit directly from these findings.
What this research studies
From my perspective as a patient or family member, the team uses a new mouse model that lacks both the ATM and aprataxin (APTX) genes to recreate the severe balance and coordination problems seen in A-T. They follow how these mice develop progressive ataxia, examine cell loss in the cerebellum—especially Purkinje neurons—and measure changes in gene activity and electrical signaling. By comparing the double-knockout mice to single-gene knockouts, the researchers aim to link specific molecular and cellular changes to the movement problems. The goal is to point to molecules and pathways that could become targets for future treatments to protect the cerebellum.
Why it matters
Potential benefit: If successful, this work could reveal why cerebellar cells die in A-T and identify targets that lead to therapies to slow or stop ataxia.
How similar studies have gone: Previous ATM-only mouse models failed to develop clinical ataxia, so the ATM+APTX double knockout is a novel approach that has produced a matching ataxic mouse phenotype.
Where this research is happening
-
Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Torrance, United States Active
Researchers
- Principal investigator: Mathews, Paul James — Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
- Study coordinator: Mathews, Paul James
Related research
Other NIH-funded projects on the same topics.
-
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.
-
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.
-
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.
-
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.
-
Understanding how unstable GAA repeats affect Friedreich’s ataxia progression
A study in adults and children with Friedreich’s ataxia will look at how changes in GAA repeat length inside the FXN gene relate to the disease’s start and progression.
-
Biomarkers to measure how well QTE therapy works for Friedreich's ataxia
Aiming to find blood and muscle signals that show whether a new FRDA treatment (QTE therapy) is working.
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.