Nodular heterotopia (NH) with overlying polymicrogyria can result in medically uncontrolled seizures. Most patients also exhibit deficits of function related to the location of the abnormal cortex. However, functional imaging studies show that the abnormal cortex can retain some function, making surgical planning difficult. It is not known if the connectivity of the abnormal cortex is normal. In this article, we performed an evaluation of molecular diffusion within the white matter in a patient with refractory epilepsy due to NH with overlying polymicrogyria. We observed that the white matter underlying the polymicrogyric area shows signs of microstructural abnormalities. This result suggests that the deficit of function from polymicrogyria result from both the structurally abnormal cortex and from its impaired connectivity.
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http://dx.doi.org/10.1016/j.seizure.2006.08.009 | DOI Listing |
Hum Mol Genet
January 2025
Section on Translational Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
The choroid plexuses (CP) are highly vascularized structures that project into the ventricles of the vertebrate brain. The polarized epithelia of the CP produce cerebrospinal fluid by transporting water and ions into the ventricles from the blood and normally secrete a large number of proteins. We assessed the feasibility of selective CP transduction with recombinant adeno-associated virus (rAAV) gene therapy vectors for treatment of lysosomal storage disease (LSD), a broad category of neurometabolic illness associated with significant burdens to affected patients and their families.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology, School of Medical Sciences, University of Campinas-UNICAMP, Universitaria "Zeferino Vaz", Rua Tessália Vieira de Camargo, 126. Cidade, Campinas, SP, 13083-887, Brazil.
Background: Skeletal and cardiac muscle damage have been increasingly recognized in female carriers of DMD pathogenic variants (DMDc). Little is known about cognitive impairment in these women or whether they have structural brain damage.
Objective: To characterize the cognitive profile in a Brazilian cohort of DMDc and determine whether they have structural brain abnormalities using multimodal MRI.
Eur J Med Res
January 2025
Department of Magnetic Resonance Imaging, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Background: To investigate the alterations in spontaneous brain activity and the similarities and differences between monocular deprivation amblyopia and binocular deprivation amblyopia.
Methods: Twenty children with binocular deprivation amblyopia, 26 children with monocular deprivation amblyopia and 20 healthy controls underwent resting-state functional magnetic resonance imaging. The evaluation of altered spontaneous brain activity was conducted using fractional amplitude of low-frequency fluctuations (fALFF).
J Psychiatr Res
January 2025
Endocrinology and Nutrition Department, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Medicine Department, Universitat Autònoma de Barcelona, 08208, Sabadell, Spain.
Individuals with Prader Willi syndrome (PWS) often exhibit behavioral difficulties characterized by deficient impulse regulation and obsessive-compulsive features resembling those observed in obsessive-compulsive disorder. The genetic configuration of PWS aligns with molecular and neurophysiological findings suggesting dysfunction in the inhibitory gamma-aminobutyric acid (GABA) interneuron system may contribute to its clinical manifestation. In the cerebral cortex, this dysfunction is expressed as desynchronization of local neural activity.
View Article and Find Full Text PDFJ Tradit Complement Med
January 2025
Institute of Food Science and Technology, College of Bioresources and Agriculture, National Taiwan University, Taipei, Taiwan.
Background And Aim: (CM) and (AM) are medicinal mushrooms with potential applications in the treatment of mood disorders, including depression and anxiety. While research suggests that both CM and AM possess anti-inflammatory properties and hold potential for treating depression when administered separately, there is limited knowledge about their efficacy when combined in a formula, as well as the underlying mechanism involving the modulation of microglia.
Experimental Procedure: Rats received oral administrations of the low-dose formulation, medium-dose formulation, and high-dose formulation over 28 consecutive days as part of the UCMS protocols.
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