3.39 excessive plasma ab40/42 in fragile x syndrome

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is associated with increased risk for ASD, anxiety, ADHD, and epilepsy. Although our understanding of FXS pathophysiology has improved, a lack of validated blood-based biomarkers of disease continues to impede bench-to-bedside efforts. As a biomarker target in FXS, amyloid- β (Aβ) precursor protein (APP) is best understood in the context of Alzheimer disease; there is a growing body of evidence suggesting that the molecule and its derivatives play a broader role in neuronal hyperexcitability, a characteristic of FXS.

Source: Journal of the American Academy of Child and Adolescent Psychiatry - September 30, 2019 Category: Psychiatry Authors: Richard McLane, Lauren Schmitt, Ernest V. Pedapati, Rebecca Shaffer, Kelli Dominick, Paul Horn, Christina Gross, Craig A. Erickson Source Type: research