FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study.

Autor: Hessl D; MIND Institute, University of California Davis Health, Sacramento, California, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA., Mandujano Rojas K; MIND Institute, University of California Davis Health, Sacramento, California, USA.; Center for Mind and Brain, University of California Davis, Davis, California, USA., Ferrer E; Department of Psychology, University of California Davis, Davis, California, USA., Espinal G; MIND Institute, University of California Davis Health, Sacramento, California, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA., Famula J; MIND Institute, University of California Davis Health, Sacramento, California, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA.; Family Caregiving Institute, Betty Irene Moore School of Nursing, University of California Davis, Sacramento, California, USA., Schneider A; MIND Institute, University of California Davis Health, Sacramento, California, USA.; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA., Hagerman R; MIND Institute, University of California Davis Health, Sacramento, California, USA.; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA., Tassone F; MIND Institute, University of California Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Davis, California, USA., Rivera SM; MIND Institute, University of California Davis Health, Sacramento, California, USA.; Center for Mind and Brain, University of California Davis, Davis, California, USA.; Department of Psychology, University of California Davis, Davis, California, USA.; Department of Psychology, University of Maryland, College Park, Maryland, USA.
Jazyk: angličtina
Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Mar; Vol. 39 (3), pp. 519-525. Date of Electronic Publication: 2023 Dec 20.
DOI: 10.1002/mds.29695
Abstrakt: Background: Men with fragile X-associated tremor/ataxia syndrome (FXTAS) often develop executive dysfunction, characterized by disinhibition, frontal dyscontrol of movement, and working memory and attention changes. Although cross-sectional studies have suggested that earlier executive function changes may precede FXTAS, the lack of longitudinal studies has made it difficult to address this hypothesis.
Objective: To determine whether executive function deterioration experienced by premutation carriers (PC) in daily life precedes and predicts FXTAS.
Methods: This study included 66 FMR1 PC ranging from 40 to 78 years (mean, 59.5) and 31 well-matched healthy controls (HC) ages 40 to 75 (mean, 57.7) at baseline. Eighty-four participants returned for 2 to 5 follow up visits over a duration of 1 to 9 years (mean, 4.6); 28 of the PC developed FXTAS. The Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A) was completed by participants and their spouses/partners at each visit.
Results: Longitudinal mixed model regression analyses showed a greater decline with age in PC compared to HC on the Metacognition Index (MI; self-initiation, working memory, organization, task monitoring). Conversion to FXTAS was associated with worsening MI and Behavioral Regulation Index (BRI; inhibition, flexibility, emotion modulation). For spouse/partner report, FXTAS conversion was associated with worsening MI. Finally, increased self-report executive function problems at baseline significantly predicted later development of FXTAS.
Conclusions: Executive function changes experienced by male PC represent a prodrome of the later movement disorder. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
(© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
Databáze: MEDLINE
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