Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia

Abstract Patients with classic galactosemia, a genetic metabolic disorder, encounter cognitive impairments, including motor (speech), language, and memory deficits. We used functional magnetic resonance imaging to evaluate spontaneous functional connectivity during rest to investigate potential abno...

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Autores principales:	Britt van Erven, Bernadette M. Jansma, M. Estela Rubio-Gozalbo, Inge Timmers
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/950b498628364bff9197f284bb7d7f15
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spelling	oai:doaj.org-article:950b498628364bff9197f284bb7d7f152021-12-02T16:06:48ZExploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia10.1038/s41598-017-09242-w2045-2322https://doaj.org/article/950b498628364bff9197f284bb7d7f152017-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-09242-whttps://doaj.org/toc/2045-2322Abstract Patients with classic galactosemia, a genetic metabolic disorder, encounter cognitive impairments, including motor (speech), language, and memory deficits. We used functional magnetic resonance imaging to evaluate spontaneous functional connectivity during rest to investigate potential abnormalities in neural networks. We characterized networks using seed-based correlation analysis in 13 adolescent patients and 13 matched controls. Results point towards alterations in several networks, including well-known resting-state networks (e.g. default mode, salience, visual network). Particularly, patients showed alterations in networks encompassing medial prefrontal cortex, parietal lobule and (pre)cuneus, involved in spatial orientation and attention. Furthermore, altered connectivity of networks including the insula and superior frontal gyrus -important for sensory-motor integration and motor (speech) planning- was demonstrated. Lastly, abnormalities were found in networks involving occipital regions, linked to visuospatial capacities and working memory. Importantly, across several seeds, altered functional connectivity to the superior frontal cortex, anterior insula, parietal lobule and the (pre)cuneus was observed in patients, suggesting special importance of these brain regions. Moreover, these alterations correlated with neurocognitive test results, supporting a relation with the clinical phenotype. Our findings contribute to improved characterization of brain impairments in classic galactosemia and provide directions for further investigations.Britt van ErvenBernadette M. JansmaM. Estela Rubio-GozalboInge TimmersNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Britt van Erven Bernadette M. Jansma M. Estela Rubio-Gozalbo Inge Timmers Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia
description	Abstract Patients with classic galactosemia, a genetic metabolic disorder, encounter cognitive impairments, including motor (speech), language, and memory deficits. We used functional magnetic resonance imaging to evaluate spontaneous functional connectivity during rest to investigate potential abnormalities in neural networks. We characterized networks using seed-based correlation analysis in 13 adolescent patients and 13 matched controls. Results point towards alterations in several networks, including well-known resting-state networks (e.g. default mode, salience, visual network). Particularly, patients showed alterations in networks encompassing medial prefrontal cortex, parietal lobule and (pre)cuneus, involved in spatial orientation and attention. Furthermore, altered connectivity of networks including the insula and superior frontal gyrus -important for sensory-motor integration and motor (speech) planning- was demonstrated. Lastly, abnormalities were found in networks involving occipital regions, linked to visuospatial capacities and working memory. Importantly, across several seeds, altered functional connectivity to the superior frontal cortex, anterior insula, parietal lobule and the (pre)cuneus was observed in patients, suggesting special importance of these brain regions. Moreover, these alterations correlated with neurocognitive test results, supporting a relation with the clinical phenotype. Our findings contribute to improved characterization of brain impairments in classic galactosemia and provide directions for further investigations.
format	article
author	Britt van Erven Bernadette M. Jansma M. Estela Rubio-Gozalbo Inge Timmers
author_facet	Britt van Erven Bernadette M. Jansma M. Estela Rubio-Gozalbo Inge Timmers
author_sort	Britt van Erven
title	Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia
title_short	Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia
title_full	Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia
title_fullStr	Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia
title_full_unstemmed	Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia
title_sort	exploration of the brain in rest: resting-state functional mri abnormalities in patients with classic galactosemia
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/950b498628364bff9197f284bb7d7f15
work_keys_str_mv	AT brittvanerven explorationofthebraininrestrestingstatefunctionalmriabnormalitiesinpatientswithclassicgalactosemia AT bernadettemjansma explorationofthebraininrestrestingstatefunctionalmriabnormalitiesinpatientswithclassicgalactosemia AT mestelarubiogozalbo explorationofthebraininrestrestingstatefunctionalmriabnormalitiesinpatientswithclassicgalactosemia AT ingetimmers explorationofthebraininrestrestingstatefunctionalmriabnormalitiesinpatientswithclassicgalactosemia
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Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia

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