Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

The Cerebellum
Joan A O'KeefeDeborah A Hall

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a "premutation" size 55-200 CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Core motor features include cerebellar gait ataxia and kinetic tremor, resulting in progressive mobility disability. There are no published studies characterizing balance deficits in FMR1 premutation carriers with and without FXTAS using a battery of quantitative measures to test the sensory integration underlying postural control, automatic postural reflexes, and dynamic postural stability limits. Computerized dynamic posturography (CDP) and two performance-based balance measures were administered in 44 premutation carriers, 21 with FXTAS and 23 without FXTAS, and 42 healthy controls to compare balance and functional mobility between these groups. Relationships between FMR1 molecular variables, age, and sex and CDP scores were explored. FXTAS subjects demonstrated significantly lower scores on the sensory organization test (with greatest reductions in the vestibular control of balance), longer response latencies to balance perturbations, and reduced stability limits compared to controls. Premutation carriers without FXTAS also demonstrated significantly delayed res...Continue Reading

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Citations

Aug 25, 2015·The Cerebellum·Joan A O'KeefeElizabeth Berry-Kravis
Apr 12, 2016·Neurology. Genetics·Deborah A HallElizabeth Berry-Kravis
Oct 27, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Winfried IlgMatthis Synofzik
Jul 16, 2016·The Clinical Neuropsychologist·Erin E RobertsonJoan A O'Keefe
Jul 14, 2019·Journal of Neuroengineering and Rehabilitation·Clodagh O'KeeffeRichard B Reilly
Oct 22, 2019·Frontiers in Integrative Neuroscience·Walker S McKinneyMatthew W Mosconi
Dec 31, 2020·Brain Sciences·Zheng WangMatthew W Mosconi

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