[11C]Flumazenil Positron Emission Tomography Analyses of Brain Gamma-Aminobutyric Acid Type A Receptors in Angelman Syndrome - 07/03/14
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Résumé |
Objective |
To evaluate the role of the gamma-aminobutyric acid type A (GABAA) receptor in Angelman syndrome (AS).
Study design |
We performed [11C]flumazenil positron emission tomography (PET) and examined GABAA receptor expression in 7 patients with AS of various genotypes (5 with the deletion, 1 with an imprinting defect [ID], and 1 with a UBE3A mutation) and 4 normal control healthy volunteers.
Results |
Relative to the control subjects, the [11C]flumazenil binding potentials (BPs) were significantly higher in the cerebral cortex and cerebellum in the 5 patients with the deletion and in the 1 patient with a UBE3A mutation, and were less frequently or barely increased in adult patients with the deletion and in the patient with IDs.
Conclusions |
Total GABAA receptor expression was increased in patients with AS with various genotypes. We suggest that a developmental dysregulation of the GABAA receptor subunits occurs in patients with AS.
Le texte complet de cet article est disponible en PDF.Abbreviations : AS, BP, FMZ, GABAA, ID, MRI, PET
Plan
Vol 152 - N° 4
P. 546 - avril 2008 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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