Public Health Relevance

Hyperarousal and other abnormalities in cortical excitability have been well documented in animal and slice models of Fragile X syndrome (FXS). However, the degree that these abnormalities are present, including any clinical correlates, in humans with FXS in the sensorimotor cortex remains an open question in the literature. The proposed studies will use human electrophysiology including transcranial magnetic stimulation and high density EEG to measure sensorimotor and sensory circuits in humans with FXS. These studies will shed light on the proposed magnitude and mechanism of cortical abnormalities in FXS. The quantification and correlation of these deficits can aid in the development of physiological biomarkers, which may differentiate endotypes of disease or speed drug discovery.

Agency
National Institute of Health (NIH)
Institute
National Institute of Mental Health (NIMH)
Type
Mentored Patient-Oriented Research Career Development Award (K23)
Project #
5K23MH112936-03
Application #
9670846
Study Section
Neural Basis of Psychopathology, Addictions and Sleep Disorders Study Section (NPAS)
Program Officer
Bechtholt, Anita J
Project Start
2017-04-07
Project End
2022-03-31
Budget Start
2019-04-01
Budget End
2020-03-31
Support Year
3
Fiscal Year
2019
Total Cost
Indirect Cost
Name
Cincinnati Children's Hospital Medical Center
Department
Type
DUNS #
071284913
City
Cincinnati
State
OH
Country
United States
Zip Code
45229
Goel, Anubhuti; Cantu, Daniel A; Guilfoyle, Janna et al. (2018) Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. Nat Neurosci 21:1404-1411