The Relationships between Dopaminergic, Glutamatergic, and Cognitive Functioning in 22q11.2 Deletion Syndrome: A Cross-Sectional, Multimodal 1H-MRS and 18F-Fallypride PET Study
Genes, vol. 13, pp. 1672
Abstract
Background: Individuals with 22q11.2 deletion syndrome (22q11DS) are at increased risk of developing psychosis and cognitive impairments, which may be related to dopaminergic and glutamatergic abnormalities. Therefore, in this exploratory study, we examined the association between dopaminergic and glutamatergic functioning in 22q11DS. Additionally, the associations between glutamatergic functioning and brain volumes in 22q11DS and healthy controls (HC), as well as those between dopaminergic and cognitive functioning in 22q11DS, were also examined. Methods: In this cross-sectional, multimodal imaging study, glutamate, glutamine, and their combined concentration (Glx) were assessed in the anterior cingulate cortex (ACC) and striatum in 17 22q11DS patients and 20 HC using 7T proton magnetic resonance spectroscopy. Ten 22q11DS patients also underwent 18F-fallypride positron emission tomography to measure dopamine D2/3 receptor (D2/3R) availability in the ACC and striatum. Cognitive performance was assessed with the Cambridge Neuropsychological Test Automated Battery. Results: No significant associations were found between ACC or striatal (1) glutamate, glutamine, or Glx concentrations and (2) D2/3R availability. In HC but not in 22q11DS patients, we found a significant relationship between ACC volume and ACC glutamate, glutamine, and Glx concentration. In addition, some aspects of cognitive functioning were significantly associated with D2/3R availability in 22q11DS. However, none of the associations remained significant after Bonferroni correction. Conclusions: Although our results did not reach statistical significance, our findings suggest an association between glutamatergic functioning and brain volume in HC but not in 22q11DS. Additionally, D2/3R availability seems to be related to cognitive functioning in 22q11DS. Studies in larger samples are needed to further elucidate our findings.
Authors 7
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Maastricht University · GGZ Rivierduinen
Affiliation as printed
Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), University of Maastricht, 6226 NB Maastricht, The Netherlands
Rivierduinen, Institute for Mental Health Care, 2333 ZZ Leiden, The Netherlands
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Norwegian University of Science and Technology
Affiliation as printed
Department of Circulation and Medical Imaging, Norwegian University of Science and Technology, NO-7491 Trondheim, Norway
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Affiliation as printed
Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), University of Maastricht, 6226 NB Maastricht, The Netherlands
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Affiliation as printed
Department of Nuclear Medicine and Molecular Imaging, Division of Imaging and Pathology, KU Leuven, B-3000 Leuven, Belgium
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Amsterdam UMC Location University of Amsterdam · Amsterdam University Medical Centers · University of Amsterdam
Affiliation as printed
Department of Radiology and Nuclear Medicine, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
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Affiliation as printed
Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), University of Maastricht, 6226 NB Maastricht, The Netherlands
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Affiliation as printed
Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), University of Maastricht, 6226 NB Maastricht, The Netherlands
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