Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients.

ABSTRACT: Over the last several years, evidence has accumulated that the GABAA receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability. In mouse and fly models, agonists of the GABAA receptor were able to rescue specific consequences of the fragile X mutation. Here, we imaged and quantified GABAA receptors in vivo in brain of fragile X patients using Positron Emission Topography (PET) and [11C]flumazenil, a known high-affinity and specific ligand for the benzodiazepine site of GABAA receptors. We measured regional GABAA receptor availability in 10 fragile X patients and 10 control subjects. We found a significant reduction of on average 10% in GABAA receptor binding potential throughout the brain in fragile X patients. In the thalamu

SUBMITTER: D'Hulst C 

PROVIDER: S-EPMC4519313 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature