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.
| 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 |
