Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review
Neurofibromatosis type 1 (NF1) is one of the most frequent monogenetic disorders. It can be associated with cognitive dysfunctions in several domains such as executive functioning, language, visual perception, motor skills, social skills, memory and/or attention. Neuroimaging is becoming more and mo...
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doaj-aa4a9ac737684f8eb6182694c55e60872020-11-25T02:39:20ZengFrontiers Media S.A.Frontiers in Neurology1664-22952020-01-011010.3389/fneur.2019.01373476657Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A ReviewEloïse Baudou0Eloïse Baudou1Federico Nemmi2Maëlle Biotteau3Stéphanie Maziero4Stéphanie Maziero5Patrice Peran6Yves Chaix7Yves Chaix8Children's Hospital, Purpan University Hospital, Toulouse, FranceToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, FranceToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, FranceToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, FranceToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, FranceOctogone-Lordat, University of Toulouse, Toulouse, FranceToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, FranceChildren's Hospital, Purpan University Hospital, Toulouse, FranceToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, FranceNeurofibromatosis type 1 (NF1) is one of the most frequent monogenetic disorders. It can be associated with cognitive dysfunctions in several domains such as executive functioning, language, visual perception, motor skills, social skills, memory and/or attention. Neuroimaging is becoming more and more important for a clearer understanding of the neural basis of these deficits. In recent years, several studies have used different imaging techniques to examine structural, morphological and functional alterations in NF1 disease. They have shown that NF1 patients have specific brain characteristics such as Unidentified Bright Objects (UBOs), macrocephaly, a higher volume of subcortical structures, microstructure integrity alterations, or connectivity alterations. In this review, which focuses on the studies published after the last 2 reviews of this topic (in 2010 and 2011), we report on recent structural, morphological and functional neuroimaging studies in NF1 subjects, with special focus on those that examine the neural basis of the NF1 cognitive phenotype. Although UBOs are one of the most obvious and visible elements in brain imaging, correlation studies have failed to establish a robust and reproducible link between major cognitive deficits in NF1 and their presence, number or localization. In the same vein, the results among structural studies are not consistent. Functional magnetic resonance imaging (fMRI) studies appear to be more sensitive, especially for understanding the executive function deficit that seems to be associated with a dysfunction in the right inferior frontal areas and the middle frontal areas. Similarly, fMRI studies have found that visuospatial deficits could be associated with a dysfunction in the visual cortex and especially in the magnocellular pathway involved in the processing of low spatial frequency and high temporal frequency. Connectivity studies have shown a reduction in anterior-posterior “long-range” connectivity and a deficit in deactivation in default mode network (DMN) during cognitive tasks. In conclusion, despite the contribution of new imaging techniques and despite relative advancement, the cognitive phenotype of NF1 patients is not totally understood.https://www.frontiersin.org/article/10.3389/fneur.2019.01373/fullNF1cognitive phenotypecerebral substratebrain imageryfMRI |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Eloïse Baudou Eloïse Baudou Federico Nemmi Maëlle Biotteau Stéphanie Maziero Stéphanie Maziero Patrice Peran Yves Chaix Yves Chaix |
spellingShingle |
Eloïse Baudou Eloïse Baudou Federico Nemmi Maëlle Biotteau Stéphanie Maziero Stéphanie Maziero Patrice Peran Yves Chaix Yves Chaix Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review Frontiers in Neurology NF1 cognitive phenotype cerebral substrate brain imagery fMRI |
author_facet |
Eloïse Baudou Eloïse Baudou Federico Nemmi Maëlle Biotteau Stéphanie Maziero Stéphanie Maziero Patrice Peran Yves Chaix Yves Chaix |
author_sort |
Eloïse Baudou |
title |
Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review |
title_short |
Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review |
title_full |
Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review |
title_fullStr |
Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review |
title_full_unstemmed |
Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review |
title_sort |
can the cognitive phenotype in neurofibromatosis type 1 (nf1) be explained by neuroimaging? a review |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Neurology |
issn |
1664-2295 |
publishDate |
2020-01-01 |
description |
Neurofibromatosis type 1 (NF1) is one of the most frequent monogenetic disorders. It can be associated with cognitive dysfunctions in several domains such as executive functioning, language, visual perception, motor skills, social skills, memory and/or attention. Neuroimaging is becoming more and more important for a clearer understanding of the neural basis of these deficits. In recent years, several studies have used different imaging techniques to examine structural, morphological and functional alterations in NF1 disease. They have shown that NF1 patients have specific brain characteristics such as Unidentified Bright Objects (UBOs), macrocephaly, a higher volume of subcortical structures, microstructure integrity alterations, or connectivity alterations. In this review, which focuses on the studies published after the last 2 reviews of this topic (in 2010 and 2011), we report on recent structural, morphological and functional neuroimaging studies in NF1 subjects, with special focus on those that examine the neural basis of the NF1 cognitive phenotype. Although UBOs are one of the most obvious and visible elements in brain imaging, correlation studies have failed to establish a robust and reproducible link between major cognitive deficits in NF1 and their presence, number or localization. In the same vein, the results among structural studies are not consistent. Functional magnetic resonance imaging (fMRI) studies appear to be more sensitive, especially for understanding the executive function deficit that seems to be associated with a dysfunction in the right inferior frontal areas and the middle frontal areas. Similarly, fMRI studies have found that visuospatial deficits could be associated with a dysfunction in the visual cortex and especially in the magnocellular pathway involved in the processing of low spatial frequency and high temporal frequency. Connectivity studies have shown a reduction in anterior-posterior “long-range” connectivity and a deficit in deactivation in default mode network (DMN) during cognitive tasks. In conclusion, despite the contribution of new imaging techniques and despite relative advancement, the cognitive phenotype of NF1 patients is not totally understood. |
topic |
NF1 cognitive phenotype cerebral substrate brain imagery fMRI |
url |
https://www.frontiersin.org/article/10.3389/fneur.2019.01373/full |
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