ArticleScientific reports2017
Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Cognitive functioning in patients with classical galactosemia: a systematic review.Orphanet journal of rare diseases · 2019Pooled it
- Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.Frontiers in psychiatry · 2026Article
- Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study.Journal of inherited metabolic disease · 2025Article
- Classical Hereditary galactosemia: findings in patients and animal models.Metabolic brain disease · 2024Review
- Brain function in classic galactosemia, a galactosemia network (GalNet) members review.Frontiers in genetics · 2024Review
- Motor Milestones: Sensory Motor Trends of Young Children with Classic Galactosemia.Journal of occupational therapy, schools & early intervention · 2024Article
- Current and Future Treatments for Classic Galactosemia.Journal of personalized medicine · 2021Review
- Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism.Journal of translational genetics and genomics · 2020Article
- The Human Body as a Super Network: Digital Methods to Analyze the Propagation of Aging.Frontiers in aging neuroscience · 2020Article
- Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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