Imperial College London
Alternate

DrInesRibeiro Violante

Faculty of Medicine, Department of Brain Sciences

Honorary Research Fellow
 
 
 
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Contact

 

+44 (0)20 7594 7994i.violante

 
 
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Location

 

Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Ribeiro:2016:10.​1212/​WNL.​0000000000003044,
author = {Ribeiro, Violante I and Patricio, M and Bernardino, I and Rebola, J and Abrunhosa, AJ and Ferreira, N and Castelo-Branco, M},
doi = {10.1212/WNL.0000000000003044},
journal = {Neurology},
title = {GABA deficiency in NF1: a multimodal [11C]-Flumazenil and spectroscopy study},
url = {http://hdl.handle.net/10044/1/32420},
year = {2016}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Objective: To provide a comprehensive investigation of the GABA system inpatients with Neurofibromatosis type 1 (NF1) that allows understanding thenature of the GABA imbalance in humans at pre- and post-synaptic levels.Methods: In this cross-sectional study, we employed multimodal imaging andspectroscopy measures to investigate GABAA receptor binding, using [11C]-Flumazenil positron emission tomography (PET), and GABA concentration,using magnetic resonance spectroscopy (MRS). 14 adult patients with NF1 and13 matched controls were included in the study. MRS was performed in theoccipital cortex and in a frontal region centered in the functionally localizedfrontal-eye fields. PET and MRS acquisitions were performed in the same day.Results: Patients with NF1 have reduced concentration of GABA+ in theoccipital cortex (P = 0.004) and frontal-eye fields (P = 0.026). PET resultsshowed decreased binding of GABAA receptors in patients in the parietooccipitalcortex, midbrain and thalamus, which are not explained by decreasedgrey matter levels.Conclusions: Abnormalities in the GABA system in NF1 involve both GABAconcentration and GABAA receptor density suggestive of neurodevelopmentalsynaptopathy with both pre- and post-synaptic involvement.
AU  - Ribeiro,Violante I
AU  - Patricio,M
AU  - Bernardino,I
AU  - Rebola,J
AU  - Abrunhosa,AJ
AU  - Ferreira,N
AU  - Castelo-Branco,M
DO  - 10.1212/WNL.0000000000003044
PY  - 2016///
SN  - 0028-3878
TI  - GABA deficiency in NF1: a multimodal [11C]-Flumazenil and spectroscopy study
T2  - Neurology
UR  - http://hdl.handle.net/10044/1/32420
ER  -
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