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GABA deficiency in NF1 A multimodal [11C]-flumazenil and spectroscopy study

Violante, Inês R., Patricio, Miguel, Bernardino, Inês, Rebola, José, Abrunhosa, Antero J., Ferreira, Nuno and Castelo-Branco, Miguel (2016) GABA deficiency in NF1 A multimodal [11C]-flumazenil and spectroscopy study Neurology, 87 (9). pp. 897-904.

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Objective: To provide a comprehensive investigation of the γ-aminobutyric acid (GABA) system in patients with neurofibromatosis type 1 (NF1) that allows understanding the nature of the GABA imbalance in humans at pre- and postsynaptic levels.

Methods: In this cross-sectional study, we employed multimodal imaging and spectroscopy measures to investigate GABA type A (GABAA) receptor binding, using [11C]-flumazenil PET, and GABA concentration, using magnetic resonance spectroscopy (MRS). Fourteen adult patients with NF1 and 13 matched controls were included in the study. MRS was performed in the occipital cortex and in a frontal region centered in the functionally localized frontal eye fields. PET and MRS acquisitions were performed in the same day.

Results: Patients with NF1 have reduced concentration of GABA+ in the occipital cortex (p = 0.004) and frontal eye fields (p = 0.026). PET results showed decreased binding of GABAA receptors in patients in the parieto-occipital cortex, midbrain, and thalamus, which are not explained by decreased gray matter levels.

Conclusions: Abnormalities in the GABA system in NF1 involve both GABA concentration and GABAA receptor density suggestive of neurodevelopmental synaptopathy with both pre- and postsynaptic involvement.

Item Type: Article
Divisions : Faculty of Health and Medical Sciences > School of Psychology
Authors :
Violante, Inês
Patricio, Miguel
Bernardino, Inês
Rebola, José
Abrunhosa, Antero J.
Ferreira, Nuno
Castelo-Branco, Miguel
Date : 29 July 2016
DOI : 10.1212/WNL.0000000000003044
Copyright Disclaimer : © 2016 American Academy of Neurology This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Depositing User : Clive Harris
Date Deposited : 12 Apr 2018 06:55
Last Modified : 16 Jan 2019 19:09

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