Background: The corpus callosum is the largest white matter tract in the human brain, involved in inter-hemispheric transfer and integration of lateralised visual, sensory-motor, language, and cognitive information. Microstructural alterations are implicated in ageing as well as various neurological conditions.
New Method: Cross-sectional diffusion-weighted images of 107 healthy adults were used to create a linear regression model of the ageing corpus callosum and its sub-regions to evaluate the impact of analysis by sub-region, and to test for deviations from healthy ageing parameters in 28 subjects with mild cognitive impairment (MCI). Alterations in diffusion properties including fractional anisotropy, mean, radial and axial diffusivities were investigated as a function of age.
Results: Changes in DTI parameters showed age-dependent regional differences, likely arising from axonal diameter variation across cross-sectional regions of interest in the corpus callosum. Patterns suggestive of degeneration with healthy ageing were observed in all regions. Diffusion parameters in sub-regions projecting to pre-motor, primary, and supplementary motor areas of the brain differed for MCI versus healthy controls, and MCI subjects were more likely than healthy controls to experience a reduction in motor skills.
Comparison With Existing Methods: Statistical analyses of the corpus callosum by five manually-defined sub-regions, instead of a single manually-defined region of interest, revealed region-specific changes in microstructure in healthy ageing and MCI, and accounted for clinically-evaluated differences in motor skills between cohorts.
Conclusion: This method will support future studies of corpus callosum, enabling identification and measurement of white matter changes that are undetectable with the single ROI approach.
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http://dx.doi.org/10.1016/j.jneumeth.2020.108870 | DOI Listing |
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFCell Mol Biol Lett
January 2025
University Cote d'Azur, Inserm, C3M, Nice, France.
Vacuolization of hematopoietic precursors cells is a common future of several otherwise non-related clinical settings such as VEXAS, Chediak-Higashi syndrome and Danon disease. Although these disorders have a priori nothing to do with one other from a clinical point of view, all share abnormal vacuolization in different cell types including cells of the erythroid/myeloid lineage that is likely the consequence of moderate to drastic dysfunctions in the ubiquitin proteasome system and/or the endo-lysosomal pathway. Indeed, the genes affected in these three diseases UBA1, LYST or LAMP2 are known to be direct or indirect regulators of lysosome trafficking and function and/or of different modes of autophagy.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
January 2025
Aberdeen Biomedical Imaging Centre, University of Aberdeen, Aberdeen, UK.
Previous research has shown that smoking tobacco is associated with changes or differences in brain volume and cortical thickness, resulting in a smaller brain volume and decreased cortical thickness in smokers compared with non-smokers. However, the effects of smokeless tobacco on brain volume and cortical thickness remain unclear. This study aimed to investigate whether the use of shammah, a nicotine-containing smokeless tobacco popular in Middle Eastern countries, is associated with differences in brain volume and thickness compared with non-users and to assess the influence of shammah quantity and type on these effects.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Neuroscience and Mental Health Innovation Institute, Cardiff University, Hadyn Ellis Building, Cardiff CF24 4HQ, UK.
Deletion and duplication in the human 16p11.2 chromosomal region are closely linked to neurodevelopmental disorders, specifically autism spectrum disorder. Data from neuroimaging studies suggest white matter microstructure aberrations across these conditions.
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