Evidence map›Paper›PMID 42167908›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2026

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

Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M Berry-Kravis, Marsha Mailick

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Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Jinkuk HongWaisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.ORCID https://orcid.org/0000-0002-6789-2571
Leann Smith DaWaltWaisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.ORCID https://orcid.org/0000-0002-0376-4095
Jessica KlusekUniversity of South Carolina, Columbia, South Carolina, USA.ORCID https://orcid.org/0000-0002-2818-0344
Elizabeth M Berry-KravisRush University Medical Center, Chicago, Illinois, USA.
Marsha MailickWaisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.ORCID https://orcid.org/0000-0001-6548-2096

Funding

Waisman Center Intellectual and Developmental Disabilities Research CenterP50HD105353 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI Brittany Gail Travers · 2021 to 2026
$8.5M
Waisman Intellectual and Developmental Disabilities Research Center Down Syndrome RegistryU54HD090256 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI MESSING, ALBEE · 2016 to 2020
$6.0M
FMR1 Premutation Phenotypes in Population-Based & Clinically-Ascertained SamplesR01HD082110 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI Leann Smith DaWalt, MARSHA RUTH MAILICK · 2015 to 2026
$5.1M
Eunice Kennedy Shriver National Institute of Child Health and Human Development P30 HD003100-S1Eunice Kennedy Shriver National Institute of Child Health and Human Development P50HD105353Eunice Kennedy Shriver National Institute of Child Health and Human Development R01 HD082110-01 to 05Eunice Kennedy Shriver National Institute of Child Health and Human Development R01 HD082110-06-10Eunice Kennedy Shriver National Institute of Child Health and Human Development U54 HD090256NICHD NIH HHS P50 HD105353NICHD NIH HHS R01 HD082110NICHD NIH HHS U54 HD090256
6 · The paper itself

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.

Indexed as

Fragile X Messenger Ribonucleoprotein 1Fragile X SyndromeAdultAgedAtaxiaCognitionEducational StatusFemaleGenetic Predisposition to DiseaseHeterozygoteHumansLongitudinal StudiesMiddle AgedMutationRisk FactorsTremorFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1college degree attainmentFMR1 premutation carriersgenetic familial riskneurodegenerative symptomsneuroprotection

Identifiers

PMID42167908
PMCPMC13656318

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