The corpus callosum is the main band of interhemispheric axonal fibers in the human brain. Corpus callosum agenesis has widely varying symptoms, mainly associated with epilepsy, cognitive failure, and different neuropsychiatric disorders. Our case of corpus callosum agenesis includes eyelid myoclonia with absences. In the literature, there is no reported case of this combination. We report this case because it is rare, and relevant for the understanding of interhemispheric communications, based on our electrophysiological findings.
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http://dx.doi.org/10.1177/1550059414527081 | DOI Listing |
Hum Genome Var
January 2025
Sabin Diagnóstico e Saúde, Brasília, DF, Brazil.
Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.
View Article and Find Full Text PDFJ Inherit Metab Dis
January 2025
Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder leading to deleterious brain effects. While animal models suggested that MPS I severely affects white matter (WM), whole-brain diffusion tensor imaging (DTI) analysis was not performed due to MPS-related morphological abnormalities. 3T DTI data from 28 severe (MPS IH, treated with hematopoietic stem cell transplantation-HSCT), 16 attenuated MPS I patients (MPS IA) enrolled under the study protocol NCT01870375, and 27 healthy controls (HC) were analyzed using the free-water correction (FWC) method to resolve macrostructural partial volume effects and unravel differences in DTI metrics accounting for microstructural abnormalities.
View Article and Find Full Text PDFJ Comput Assist Tomogr
November 2024
Graduate MBA Program, Faculty of Health, Education, Medicine and Social Care, Anglia Ruskin University, Cambridge, United Kingdom.
Purpose: This study examined the occurrence and MRI characteristics of perinatal arterial ischemic stroke (PAIS) in children with cerebral palsy (CP) and suspected term hypoxic-ischemic injury (HII).
Methods: A retrospective review of brain MRI scans was conducted on children with CP and suspected term HII in South Africa.
Results: Out of 1620 children with CP included in the study, 15 (0.
Psychol Med
January 2025
Center for Neuroimaging, Cognition and Genomics (NICOG), Clinical Neuroimaging Laboratory, Galway Neuroscience Centre, University of Galway, Galway, Ireland.
Background: Childhood trauma (CT) is related to altered fractional anisotropy (FA) in individuals with schizophrenia (SZ). However, it remains unclear whether CT may influence specific cellular or extracellular compartments of FA in SZ with CT experience. We extended our previous study on FA in SZ (Costello et al.
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