ArticleJournal of inherited metabolic disease2015
White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 3 of them syntheses that pooled it.
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Who cites it
45 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.Journal of inherited metabolic disease · 2025Pooled it
- Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities.Stroke · 2020Pooled it
- Cognitive functioning in patients with classical galactosemia: a systematic review.Orphanet journal of rare diseases · 2019Pooled it
- Working memory training and brain structure and function in extremely preterm or extremely low birth weight children.Human brain mapping · 2020Trial
- Neurite orientation dispersion and density imaging in stroke: current applications, limitations, and future directions.Frontiers in human neuroscience · 2026Review
- Decreased hippocampal neurite density in late-middle-aged adults following prenatal exposure to higher levels of maternal inflammation.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Article
- 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
- Decreased hippocampal neurite density in late middle-aged adults following prenatal exposure to higher levels of maternal inflammation.bioRxiv : the preprint server for biology · 2025Article
- Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.Clinical case reports · 2025Article
- Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia.JIMD reports · 2024Article
- Neuroactive metabolites and bile acids are altered in extremely premature infants with brain injury.Cell reports. Medicine · 2024Article
- Gait impairment-related axonal degeneration in Parkinson's disease by neurite orientation dispersion and density imaging.NPJ Parkinson's disease · 2024Article
- 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
- Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.Journal of clinical medicine · 2023Article
- C-NODDI: a constrained NODDI model for axonal density and orientation determinations in cerebral white matter.Frontiers in neurology · 2023Article
- Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.Journal of inherited metabolic disease · 2022Article
- Right fronto-parietal networks mediate the neurocognitive benefits of enriched environments.Brain communications · 2022Article
- AbnormalJIMD reports · 2021Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
White matter abnormalities have been observed in patients with classic galactosemia, an inborn error of galactose metabolism. However, magnetic resonance imaging (MRI) data collected in the past were generally qualitative in nature. Our objective was to investigate white matter microstructure pathology and examine correlations with outcome and behaviour in this disease, by using multi-shell diffusion weighted imaging. In addition to standard diffusion tensor imaging (DTI), neurite orientation dispersion and density imaging (NODDI) was used to estimate density and orientation dispersion of neurites in a group of eight patients (aged 16-21 years) and eight healthy controls (aged 15-20 years). Extensive white matter abnormalities were found: neurite density index (NDI) was lower in the patient group in bilateral anterior areas, and orientation dispersion index (ODI) was increased mainly in the left hemisphere. These specific regional profiles are in agreement with the cognitive profile observed in galactosemia, showing higher order cognitive impairments, and language and motor impairments, respectively. Less favourable white matter properties correlated positively with age and age at onset of diet, and negatively with behavioural outcome (e.g. visual working memory). To conclude, this study provides evidence of white matter pathology regarding density and dispersion of neurites in these patients. The results are discussed in light of suggested pathophysiological mechanisms.
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