Early causes of frontotemporal dementia and motor neuron disease
Official title: Upstream pathogenesis in familial and sporadic frontotemporal dementia and motor neuron disease
Funded at University of California, San Francisco · NIH-11246968 · Data updated 2026-11-12
Researchers are using donated brain tissue from people with genetic and non-genetic frontotemporal dementia and motor neuron disease to find early changes that lead to TDP-43 protein problems.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project start | July 1, 2018 |
| Project end | July 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $3,153,019 |
| NIH project number | 2RF1NS104437-06 |
| Project ID | NIH-11246968 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are people living with frontotemporal dementia or motor neuron disease — especially those with a C9orf72 mutation — or their families willing to consent to brain donation after death.
✕Less likely to help
People without FTD/MND, those not eligible or willing to donate brain tissue, and patients seeking immediate treatment effects are unlikely to directly benefit from this tissue-based research.
What this research studies
If I or my loved one had frontotemporal dementia (FTD) or motor neuron disease (MND), researchers would study brain tissue donated after death from people with both C9orf72-related and sporadic (non-genetic) disease. They will use advanced staining (multiplex immunofluorescence), biochemical tests, and proteomics to map how dipeptide repeat proteins and TDP-43 interact and to find other proteins involved. The team will compare cases with lots of TDP-43 aggregates to rare cases that have severe symptoms but little TDP-43 to look for other drivers of disease. Findings will be linked to clinical records to see how the brain changes match symptom severity and function.
Why it matters
Potential benefit: If successful, this work could point to new targets for therapies and improve understanding of why some people develop FTD/MND, guiding future diagnostics and treatments.
How similar studies have gone: Prior postmortem and proteomic studies have revealed TDP-43 changes and C9orf72 dipeptide repeat proteins, but combining multiplex immunofluorescence with biochemical and proteomic comparisons across rare case types is a relatively novel approach.
Where this research is happening
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University of California, San Francisco
San Francisco, United States Active
Researchers
- Principal investigator: Seeley, William W — University of California, San Francisco
- Study coordinator: Seeley, William W
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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.