FMR1 Gene Disorders Research Program

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FXTAS Movement Study

Research Gauges Neurodegeneration Tied to FXTAS by Measuring Motor Behavior

The neurological disorder FXTAS (pronounced “fax-tas”) stems from a genetic premutation seen in one of every 151 women and one of every 468 men, called the FMR1 premutation.

Just 15 years ago, Fragile X-associated tremor/ataxia syndrome (FXTAS) was discovered by Randi Hagerman, a doctor who saw that many of her Fragile X syndrome patients had grandfathers with a tremor, according to the National Fragile X Foundation. These older relatives eventually were found to have the FMR1 premutation, and many showed neurological symptoms akin to Parkinson’s disease or early-onset Alzheimer’s disease.

But much remains to be discovered about FXTAS. Read more >>

 

Selected Publications

McKinney WS, Bartolotti J, Khemani P, Wang JY, Hagerman RJ, Mosconi MW. (in press). Cerebellar-cortical function and connectivity during sensorimotor behavior in aging FMR1 gene premutation carriers. NeuroImage: Clinical.

McKinney WS, Wang Z, Kelly S, Khemani P, Lui S, White SP, Mosconi MW. (2019). Precision sensorimotor control in aging FMR1 gene premutation carriers. Frontiers in Integrative Neuroscience, 13(56). doi: 10.3389/fnint.2019.00056

Park HS, Wang Z, McKinney WS, Khemani P, Lui S, Christou E, Mosconi MW. (2019). Functional motor control deficits in older FMR1 premutation carriers. Experimental Brain Research. 10.1007/s00221-019-05566-3.

Wang Z, Khemani P, Schmitt LM, Lui S, Mosconi MW. (2019). Static and dynamic postural control deficits in aging Fragile X mental retardation 1 (FMR1) gene premutation carriers. Journal of Neurodevelopmental Disorders.

Sahin M, Jones SR, Sweeney JA, Berry-Kravis E, Connors BW, Ewen JB, Hartman AL, Levin AR, Potter WZ, Mamounas LA, and the Biomarker Workshop Faculty1. (2019). Discovering translational biomarkers in neurodevelopmental disorders. Nature Reviews Drug Discovery.

Ethridge LE, White SP, Mosconi MW, Wang J, Pedapati EV, Erickson CA, Byerly MJ, Sweeney JA. (2017). Neural synchronization deficits linked to cortical hyper-excitability and auditory hypersensitivity in Fragile X Syndrome. Molecular Autism. 8(22): doi: 10.1186/s13229-017-0140-1

Wang J, Ethridge LE, Mosconi MW, White SP, Binder DK, Pedapati EV, Erickson CA, Byerly MJ, Sweeney JA. (2017). A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome. Journal of Neurodevelopmental Disorders. 9:11. doi: 10.1186/s11689-017-9191-z

Ethridge LE, White SP, Mosconi MW, Wang J, Byerly MJ, Sweeney JA. (2016). Reduced habituation of auditory evoked potentials indicated cortical hyperexcitability in Fragile X Syndrome. Translational Psychiatry, 6:e787.