Background And Purpose: The corpus callosum is a heterogeneous white-matter tract that connects the cerebral hemispheres. The purpose of this investigation was to study its microstructural architecture in normal human adult brains by using diffusion tensor imaging (DTI).
Methods: Two hundred consecutive patients referred for brain MR imaging underwent additional DTI with a high gradient field strength applied in six directions. Forty-two patients met the following inclusion criteria: 1) normal brain and 2) age greater than 18 years. Anisotropy maps were generated, and regions of interest were drawn around specified regions within the corpus callosum. Results were stratified by sex and age. In addition, available histologic specimens of the corpus callosum from cadaver brains were analyzed with conventional and specialized vascular staining.
Results: Anisotropy values in the various regions of the corpus callosum differed significantly. Average values of the anisotropy index for the genu, body, and splenium of the corpus callosum were 0.400, 0.456, and 0.539, respectively. The differences between these values are statistically significant (P <.01). Increased anisotropy was present in posterior areas in both sexes and in all three age groups examined.
Conclusion: The results of this investigation show a statistically significant increase in anisotropy of the corpus callosum in its more posterior portions compared with its more anterior portions across sex and age groups. Although the microstructural etiology for this apparent increase in anisotropy is unclear, a number of possible mechanisms are presented.
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Rinsho Shinkeigaku
January 2025
Department of Neurology, Gifu Prefectural General Medical Center.
A 49-year-old female presented with the primary complaint of hand tremors. Neurological examination on admission revealed signs of cognitive impairment, bulbar palsy, dystonia, cerebellar ataxia, and pyramidal tract disease. T-weighted brain MRI revealed hyperintense signals in the subcortical white matter, basal ganglia, and cerebellar dentate nucleus, with no atrophy of the brainstem or corpus callosum.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
View Article and Find Full Text PDFRiga-Fede disease (RFD) is a rare, benign condition marked by traumatic ulceration on the tongue's ventral side in infants. It arises from friction between the tongue and lower incisors during sucking, potentially worsening into a keratinized lesion if the cause is not addressed. This report details the case of a 1-year-6-month-old male with hydrocephalus, cleft palate, corpus callosum dysgenesis, neuropsychomotor developmental delay, and tracheostomy and gastrostomy needs.
View Article and Find Full Text PDFNMR Biomed
March 2025
Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands.
Gliomas are highly heterogeneous and often include a nonenhancing component that is hyperintense on T weighted MRI. This can often not be distinguished from secondary gliosis and surrounding edema. We hypothesized that the extent of these T hyperintense areas can more accurately be determined on high-quality 7 T MRI scans.
View Article and Find Full Text PDFMol Genet Metab
January 2025
Image Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA. Electronic address:
Objective: GM1 gangliosidosis is a rare lysosomal storage disorder characterized by the accumulation of GM1 gangliosides in neuronal cells, resulting in severe neurodegeneration. Currently, limited data exists on the brain volumetric changes associated with this disease. This study focuses on the late-infantile and juvenile subtypes of type II GM1 gangliosidosis, aiming to quantify brain volumetric characteristics to track disease progression.
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