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dc.contributor.authorWang, Zheng
dc.contributor.authorKhemani, Pravin
dc.contributor.authorSchmitt, Lauren M.
dc.contributor.authorLui, Su
dc.contributor.authorMosconi, Matthew W.
dc.identifier.citationWang, Z., Khemani, P., Schmitt, L.M. et al. Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers. J Neurodevelop Disord 11, 2 (2019).
dc.descriptionThis work is licensed under a Creative Commons Attribution 4.0 International License.en_US
dc.description.abstractBackground Individuals with premutation alleles of the fragile X mental retardation 1 (FMR1) gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) during aging. Characterization of motor issues associated with aging in FMR1 premutation carriers is needed to determine neurodegenerative processes and establish new biobehavioral indicators to help identify individuals at greatest risk of developing FXTAS.

Methods We examined postural stability in 18 premutation carriers ages 46–77 years and 14 age-matched healthy controls. Participants completed a test of static stance and two tests of dynamic postural sway on a force platform to quantify postural variability and complexity. CGG repeat length was measured for each premutation carrier, and MRI and neurological evaluations were conducted to identify carriers who currently met criteria for FXTAS. Of the 18 premutation carriers, seven met criteria for definite/probable FXTAS (FXTAS+), seven showed no MRI or neurological signs of FXTAS (FXTAS−), and four were inconclusive due to insufficient data.

Results Compared to controls, premutation carriers showed increased center of pressure (COP) variability in the mediolateral (COPML) direction during static stance and reduced COP variability in the anterior-posterior (COPAP) direction during dynamic AP sway. They also showed reductions in COPML complexity during each postural condition. FXTAS+ individuals showed reduced COPAP variability compared to FXTAS− carriers and healthy controls during dynamic AP sway. Across all carriers, increased sway variability during static stance and decreased sway variability in target directions during dynamic sways were associated with greater CGG repeat length and more severe neurologically rated posture and gait abnormalities.

Conclusion Our findings indicate that aging FMR1 premutation carriers show static and dynamic postural control deficits relative to healthy controls implicating degenerative processes of spinocerebellar and cerebellar-brainstem circuits that may be independent of or precede the onset of FXTAS. Our finding that FXTAS+ and FXTAS− premutation carriers differed on their level of intentional AP sway suggests that neural mechanisms of dynamic postural control may be differentially impacted in patients with FXTAS, and its measurement may be useful for rapidly and precisely identifying disease presence and onset.
dc.rights© The Author(s). 2019.en_US
dc.subjectFragile X mental retardation 1 (FMR1) geneen_US
dc.subjectFMR1gene premutation alleleen_US
dc.subjectFragile X-associated tremor/ataxia syndrome (FXTAS)en_US
dc.subjectPostural controlen_US
dc.titleStatic and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriersen_US
kusw.kuauthorMosconi, Matthew W.
kusw.kudepartmentApplied Behavioral Scienceen_US
kusw.kudepartmentLife Span Instituteen_US
kusw.oanotesPer Sherpa Romeo 01/20/2021:

Journal of Neurodevelopmental Disorders [Open panel below]Publication Information TitleJournal of Neurodevelopmental Disorders [English] ISSNs Print: 1866-1947 Electronic: 1866-1955 URL PublishersBMC [Commercial Publisher] DOAJ Listing Requires APCYes [Data provided by DOAJ] [Open panel below]Publisher Policy Open Access pathways permitted by this journal's policy are listed below by article version. Click on a pathway for a more detailed view.

Published Version NoneCC BYPMC Any Website, Journal Website, +3 OA PublishingThis pathway includes Open Access publishing EmbargoNo Embargo LicenceCC BY Copyright OwnerAuthors Publisher Deposit PubMed Central Europe PubMed Central Location Any Website Author's Homepage Institutional Repository Named Repository (PubMed Central) Journal Website Conditions Copy of License must accompany any deposit. Published source must be acknowledged Must link to publisher version with DOI
kusw.oaversionScholarly/refereed, publisher versionen_US
kusw.oapolicyThis item meets KU Open Access policy criteria.en_US

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© The Author(s). 2019.
Except where otherwise noted, this item's license is described as: © The Author(s). 2019.