Investigating language changes in individuals with FMR1 premutation related to FXTAS.
Language as a Candidate Marker of FXTAS in FMR1 Premutation Carriers
This study is looking at people who have the FMR1 premutation to see if changes in how they use language can help spot early signs of cognitive decline related to fragile X-associated tremor/ataxia syndrome (FXTAS), which could lead to better ways to detect and support them.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Arizona NIH-funded |
| Lab location | 1 site (Tucson, United States) |
| Project ID | NIH-10890046 on NIH RePORTER |
What this research studies
This research focuses on individuals who carry the FMR1 premutation, which can lead to fragile X-associated tremor/ataxia syndrome (FXTAS). The study aims to explore how language abilities may serve as early indicators of cognitive decline associated with FXTAS. By comparing language use in FMR1 premutation carriers to healthy individuals, researchers hope to identify specific language changes that could predict the onset of FXTAS. This could help in understanding the cognitive challenges faced by these individuals and improve early detection and intervention strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals aged 55-60 who are carriers of the FMR1 premutation, particularly those showing early signs of cognitive decline.
Not a fit: Patients who do not carry the FMR1 premutation or are under the age of 55 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide early markers for FXTAS, allowing for timely interventions that may improve quality of life for affected individuals.
How similar studies have performed: While this approach is novel in the context of FXTAS, similar studies have successfully identified language changes as predictors of cognitive decline in other conditions like Alzheimer's disease.
Where this research is happening
Tucson, United States
- University of Arizona — Tucson, United States (Active)
Researchers
- Principal investigator: Maltman, Alexis Nell — University of Arizona
- Study coordinator: Maltman, Alexis Nell
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 below.