How spinocerebellar ataxia type 12 affects the brain and movement
Official title: Molecular Pathogenesis of spinocerebellar ataxia type 12
Funded at Johns Hopkins University · NIH-11263661 · Data updated 2026-11-12
Researchers are looking at how a CAG repeat in the PPP2R2B gene changes RNA and protein forms in people with SCA12 to explain tremor, walking problems, and brain loss.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | January 1, 2023 |
| Project end | December 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $485,937 |
| NIH project number | 5R01NS122756-04 |
| Project ID | NIH-11263661 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with genetically confirmed SCA12 (PPP2R2B CAG/CTG expansion) or family members at risk who can provide clinical information or samples would be the most relevant candidates.
✕Less likely to help
People with other forms of ataxia or without the PPP2R2B mutation are unlikely to directly benefit from this project.
What this research studies
If I had SCA12, this project would focus on the specific CAG/CTG repeat in the PPP2R2B gene and how it changes which RNA splice variants and protein isoforms are produced. The team will map the different PPP2R2B transcripts and the eight main protein isoforms (Bβ1–Bβ8) and study how the expanded repeat shifts splicing or expression. They will use molecular lab methods on cells and brain tissue, including human-derived samples, to see how altered PP2A targeting and localization might lead to neuronal damage. The researchers aim to connect those molecular changes to clinical features like tremor, abnormal gait, and cortical/cerebellar atrophy.
Why it matters
Potential benefit: If successful, this work could reveal molecular steps that cause SCA12 and point to targets for therapies to reduce symptoms or slow brain degeneration.
How similar studies have gone: Molecular and splicing studies in other repeat-expansion disorders (for example Huntington disease) have identified disease mechanisms, but SCA12-specific mechanisms remain less explored.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Li, Pan — Johns Hopkins University
- Study coordinator: Li, Pan
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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.