Affected functional networks associated with sentence production in classic galactosemia

Timmers, Inge; Hurk, Job van den; Hofman, Paul; Zimmermann, Luc J. I.; Uludağ, Kâmil; Jansma, Bernadette M.; Rubio‐Gozalbo, M. Estela

doi:10.1016/j.brainres.2015.05.007

Cited by 15 publications

(29 citation statements)

References 64 publications

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“…Overall, speech and language Glycosylation-type II, CDG-II). Blue arrows for ALG9 (Alpha-1, 2-mannosyltransferase), MGAT1 and MGAT3 represent respective gene expression pattern observed in our recent study (Maratha et al 2016) disorders are estimated to affect at least 25% of individuals with galactosaemia, commonly presenting in childhood (Schweitzer et al 1993;Potter et al 2008Potter et al , 2013Timmers et al 2012;Waisbren et al 2012;Coss et al 2013), with pathophysiological correlates studied in fMRI brain studies (Timmers et al 2015).…”

Section: Congenital Disorders Of Glycosylationmentioning

confidence: 77%

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

et al. 2016

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Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet. While this is lifesaving in the neonate, complications persist in treated individuals, and the cause of these, despite early initiation of treatment, and shared GALT genotypes remain poorly understood. Systemic abnormal glycosylation has been proposed to contribute substantially to the ongoing pathophysiology. The gross N-glycosylation assembly defects observed in the untreated neonate correct over time with treatment. However, N-glycosylation processing defects persist in treated children and adults.Congenital disorders of glycosylation (CDG) are a large group of over 100 inherited disorders affecting largely N-and O-glycosylation.In this review, we compare the clinical features observed in galactosaemia with a number of predominant CDG conditions.We also summarize the N-glycosylation abnormalities, which we have described in galactosaemia adult and paediatric patients, using an automated high-throughput HILIC-UPLC analysis of galactose incorporation into serum IgG with analysis of the corresponding N-glycan gene expression patterns and the affected pathways.

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Section: Congenital Disorders Of Glycosylationmentioning

confidence: 77%

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

et al. 2016

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“…The role of SMA in silent reading was especially interesting. Previous research has indicated some degree of functional connectivity between STC and SMA during speech and language tasks (Simonyan et al, ; Timmers et al, ), suggesting that SMA contributes to vocalization and syntax processing when syntax is difficult. But, we also found significant bidirectional connections between SMA and STC during the silent reading condition in which there was no vocalization.…”

Section: Discussionmentioning

confidence: 96%

“…We reasoned that the strongest evidence for a speech motor effect would be revealed by a task x region interaction yielding greater hemoglobin concentration values for the oral reading condition over the silent reading condition in the three nonmotor areas (IFC, STC, and IPL) together with high levels of connectivity among language and The role of SMA in silent reading was especially interesting. Previous research has indicated some degree of functional connectivity between STC and SMA during speech and language tasks (Simonyan et al, 2015;Timmers et al, 2015), suggesting that SMA contributes to vocalization and syntax processing when syntax is difficult. But, we also found significant bidirectional connections between SMA and STC during the silent reading condition in which there was no vocalization.…”

Section: Discussionmentioning

confidence: 99%

A functional near‐infrared spectroscopic investigation of speech production during reading

Wan

Hancock

Moon

et al. 2017

Human Brain Mapping

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This study was designed to test the extent to which speaking processes related to articulation and voicing influence Functional Near Infrared Spectroscopy (fNIRS) measures of cortical hemodynamics and functional connectivity. Participants read passages in three conditions (oral reading, silent mouthing, and silent reading) while undergoing fNIRS imaging. Area under the curve (AUC) analyses of the oxygenated and deoxygenated hemodynamic response function concentration values were compared for each task across five regions of interest. There were significant region main effects for both oxy and deoxy AUC analyses, and a significant region × task interaction for deoxy AUC favoring the oral reading condition over the silent reading condition for two nonmotor regions. Assessment of functional connectivity using Granger Causality revealed stronger networks between motor areas during oral reading and stronger networks between language areas during silent reading. There was no evidence that the hemodynamic flow from motor areas during oral reading compromised measures of language-related neural activity in nonmotor areas. However, speech movements had small, but measurable effects on fNIRS measures of neural connections between motor and nonmotor brain areas across the perisylvian region, even after wavelet filtering. Therefore, researchers studying speech processes with fNIRS should use wavelet filtering during preprocessing to reduce speech motion artifacts, incorporate a nonspeech communication or language control task into the research design, and conduct a connectivity analysis to adequately assess the impact of functional speech on the hemodynamic response across the perisylvian region.

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“…Recently, a task-based functional MRI (fMRI) study by our group, wherein patients carried out a language production task, was the first to point towards abnormal language-related brain networks in this disorder 27 . Evaluation of neural activity demonstrated that patients recruited different and more extensive brain regions during language production as compared to controls.…”

Section: Introductionmentioning

confidence: 99%

“…In our previous study, we focused on functional networks that are involved in an active task 27 . However, resting-state fMRI allows us to investigate the overall functional organization of brain networks, which has not been studied before in classic galactosemia.…”

Section: Introductionmentioning

confidence: 99%

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

Erven

Jansma

Rubio-Gozalbo

et al. 2017

Sci Rep

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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.

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Affected functional networks associated with sentence production in classic galactosemia

Cited by 15 publications

References 64 publications

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

A functional near‐infrared spectroscopic investigation of speech production during reading

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

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