Premutation alleles of the Fragile X gene, FMR1, are associated with a range of psychiatric and physical health conditions that reduce quality of life for carriers and their families. Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease defined by action tremor, ataxia, and neurocognitive decline, represents the most severe condition of aging associated with FMR1 premutation alleles. While FXTAS is far more penetrant among male relative to female premutation carriers, there is increased recognition that a subset of female premutation carriers develop FXTAS during aging and that their declines may be severe. Emerging evidence also suggests that clinical issues during aging and FXTAS presentation each may vary in sex-specific ways among premutation carriers. These findings highlight the urgent need to clarify aging-related changes in females and determine key predictors of FXTAS onset so that therapeutic strategies may be introduced early in disease course when they are most likely to be effective. During this panel, new results will be presented to define clinical phenotypes associated with aging in female premutation carriers and identify predictors of FXTAS degeneration in women. This symposium includes an interdisciplinary, multi-institute panel that will share new findings on sex-specific patterns of degeneration during aging among female FMR1 premutation carriers.
Chair: Matt Mosconi, University of Kansas,
Second Chair: Jessica Klusek, University of South Carolina,
Discussant: Randi Hagerman, University of California at Davis
First Presentation: Sensorimotor, memory, and brain changes associated with aging in females with premutation alleles of the Fragile X gene, FMR1
Matthew Mosconi, University of Kansas, Robin Shafer, University of Kansas
Kathryn Unruh, University of Kansas
Abigail Driggers, Emory University
Sydney Gardner, University of Kansas
Sophia Peterson, University of Kansas
Cassandra Stevens, University of Kansas
Kristen McGatlin, Kansas State University
Andrea Lee, University of Kansas Medical Center
Richard Dubinsky, University of Kansas Medical Center
Randi J. Hagerman, University of California at Davis
Flora Tassone, University of California at Davis
Heather Bailey, Kansas State University
Second Presentation: Cognitive impairment in women with the FMR1 premutation
Jessica Klusek, University of South Carolina, Laura Friedman, University of South Carolina
Thomas Christensen, University of South Carolina
Elizabeth Berry-Kravis, Rush University Medical Center
Anya Benitez, Medical University of South Carolina
Federico Rodriguez-Porcel, Medical University of South Carolina
Christine Cooper, Medical University of South Carolina
Jane Joseph, Medical University of South Carolina
Third Presentation: Identifying Associated Comorbid Health Conditions Among Women with Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Symptoms
Emily Allen, Emory University School of Medicine,
Fourth Presentation: Influences of working memory on quality of life among females with the FMR1 premutation
Nell Maltman, University of Arizona,