Work

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

Year: 2026

Type: article

Abstract: The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self-reported FXTAS-type symptoms in women carrying the FMR1 premutation. We investigated age-related changes in symptoms, measured prospectively over a decade. Using an accelerated longitudinal design approach, we estimated trajectories of change extending from early midlife (starting at age 39) into older age (up to age 80) in a community-based cohort. Results indicated that women with the FMR1 premutation who have a family history of FXTAS are at greater risk for experiencing symptoms during late midlife and older age than those who do not have such a family history. Consistent with research on other neurodegenerative diseases, this family history risk may be moderated by completing a college education, suggesting that cognitive enrichment during a period of neuroplasticity might provide protection from the neurodegenerative symptoms that are experienced by some women with the premutation as they age.

Source: American Journal of Medical Genetics Part B Neuropsychiatric Genetics

DOI: 10.1002/ajmg.b.70022

Authors: Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick

Institutions: University of Wisconsin–Madison, University of South Carolina, Rush University Medical Center

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,920