Changes in Gray Matter Morphology and White Matter Microstructure Across the Adult Lifespan in People With Temporal Lobe Epilepsy.

Background And Objectives: Temporal lobe epilepsy (TLE) is commonly associated with mesiotemporal pathology and widespread alterations of gray and white matter structures. Evidence supports a progressive condition, although the temporal evolution of TLE is poorly defined. In this ENIGMA-Epilepsy study, we aim to investigate structural alterations in gray and white matter across the adult lifespan in patients with TLE by charting both gray and white matter changes and explore the covariance of age-related alterations in both compartments.

ILAE neuroimaging task force highlight: Tuberous sclerosis complex-related epilepsy.

The ILAE Neuroimaging Task Force publishes educational case reports that highlight basic aspects of neuroimaging in epilepsy consistent with the ILAE's educational mission. Tuberous sclerosis complex (TSC) is a rare, complex, and multisystem autosomal dominant genetic disorder that arises from variations in the TSC1 or TSC2 genes. While characterized by a wide range of clinical manifestations, TSC commonly presents with epilepsy, which is a clinically challenging feature of the condition.

Associations between epilepsy-related polygenic risk and brain morphology in childhood.

Extensive neuroimaging research in temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) has identified brain atrophy as a disease phenotype. While it is also related to a complex genetic architecture, the transition from genetic risk factors to brain vulnerabilities remains unclear. Using a population-based approach, we examined the associations between epilepsy-related polygenic risk for HS (PRS-HS) and brain structure in healthy developing children, assessed their relation to brain network architecture, and evaluated its correspondence with case-control findings in TLE-HS diagnosed patients relative to healthy individuals We used genome-wide genotyping and structural T1-weighted magnetic resonance imaging (MRI) of 3,826 neurotypical children from the Adolescent Brain Cognitive Development (ABCD) study.

Spinal cord structural changes in SPG4: insights from a large cohort using advanced neuroimaging.

Background: SPG4 is the most common autosomal dominant hereditary spastic paraplegia (HSP), a neurodegenerative disorder characterized by progressive spasticity and weakness in the lower limbs due to corticospinal tract and fasciculus gracilis degeneration. While previous neuroimaging studies have focused on structural alterations in the spinal cord (SC), diffusion-related abnormalities remain insufficiently explored in a large SPG4 cohort.

Objectives: To assess structural and diffusion abnormalities in the cervical and upper thoracic SC in a large SPG4 cohort and evaluate correlations with demographic and clinical variables.

Neuronal surface and intracellular antibody testing in patients with long-term epilepsy.

Objective: We aimed to investigate the frequency of neuronal surface and intracellular antibodies in individuals with long-term epilepsy and the associated clinical and laboratory characteristics.

Methods: We tested sera from 223 patients with epilepsy without signs of autoimmune encephalitis and 12 patients with epilepsy and a subacute onset of additional neurological symptoms. All had epilepsy lasting at least one year.

Convergent large-scale network and local vulnerabilities underlie brain atrophy across Parkinson's disease stages: a worldwide ENIGMA study.

Parkinson's disease (PD) is associated with extensive structural brain changes. Recent work has proposed that the spatial pattern of disease pathology is shaped by both network spread and local vulnerability. However, only few studies assessed these biological frameworks in large patient samples across disease stages.

ILAE neuroimaging task force highlight: MRI detection of early life epilepsy caused by focal cortical dysplasia.

The ILAE Neuroimaging Task Force aims to publish educational case reports that highlight basic aspects of neuroimaging in epilepsy consistent with the ILAE's educational mission. Here, we describe a case series of three neonates with focal cortical dysplasia (FCD)-related drug-resistant epilepsy who underwent surgical intervention. The purpose of this series is to demonstrate the difficulties of identifying FCD in this age group and to highlight the potential added value of arterial spin labeling MRI for delineation of the epileptogenic zone.

Quantitative SISCOM assessment for epileptogenic zone localization: insights from a multicenter study comparing two software platforms in temporal lobe epilepsy.

Introduction: Pharmacoresistant epilepsy affects around one-third of individuals with epilepsy, requiring precise diagnosis, particularly in cases where surgical resection of the epileptogenic zone (EZ) is an option. Functional imaging techniques, such as ictal-interictal subtraction SPECT coregistered to MRI (SISCOM), have proven useful in pre-surgical evaluation by improving EZ localization accuracy. However, the widespread use of SISCOM is limited by the high costs and technical complexity of commercial software.

Neuroimaging-based data-driven subtypes of spatiotemporal atrophy due to Parkinson's disease.

Parkinson's disease is the second most common neurodegenerative disease. Despite this, there are no robust biomarkers to predict progression, and understanding of disease mechanisms is limited. We used the Subtype and Stage Inference algorithm to characterize Parkinson's disease heterogeneity in terms of spatiotemporal subtypes of macroscopic atrophy detectable on T1-weighted MRI-a successful approach used in other neurodegenerative diseases.

Cell type mapping of mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy using single-nucleus multiomics.

Objective: Mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) are brain lesions associated with focal epilepsy and characterized by increased oligodendroglial density, heterotopic neurons, and hypomyelination in the white matter. Although previous studies have implicated somatic mutations in the SLC35A2 gene, the cellular and molecular mechanisms underlying MOGHE pathogenesis remain elusive. To address this gap, this study aimed to systematically characterize the cell type composition and molecular alterations of MOGHE lesions at cellular resolution using single-nucleus multiomic profiling.

Updated classification of epileptic seizures: Position paper of the International League Against Epilepsy.

The International League Against Epilepsy (ILAE) has updated the operational classification of epileptic seizures, building upon the framework established in 2017. This revision, informed by the implementation experience, involved a working group appointed by the ILAE Executive Committee. Comprising 37 members from all ILAE regions, the group utilized a modified Delphi process, requiring a consensus threshold of more than two thirds for any proposal.

Aerobic physical exercise improves quality of life in temporal lobe epilepsy.

Background:  A prior study showed that people with temporal lobe epilepsy (TLE) with an active lifestyle present a better quality of life (QoL), but the influence of aerobic physical exercise (APE) in the QoL of these patients is still unclear. As pharmacoresistance is commonly associated with TLE, the possibility of seizures during the activities might prevent patients from benefiting from APE.

Objective:  To analyze the influence of APE in the QoL of TLE patients and also focus on the seizure worry subitem of the QoL in epilepsy 31 (QoLIE-31) questionnaire.

ILAE neuroimaging task force highlight: The utility of multimodal neuroimaging in diagnostic and presurgical workup of drug-resistant focal epilepsy.

The ILAE Neuroimaging Task Force publishes educational case reports that highlight basic aspects of neuroimaging in epilepsy, consistent with ILAE's educational mission. In patients with drug-resistant focal epilepsy who are candidates for surgical intervention, the identification of structural abnormalities is a strong predictor of favorable postoperative seizure outcomes. When conventional imaging is insufficient, the integration of multimodal neuroimaging data with structural, metabolic, and functional imaging modalities is often helpful.

Detection of Epileptogenic Focal Cortical Dysplasia Using Graph Neural Networks: A MELD Study.

Importance: A leading cause of surgically remediable, drug-resistant focal epilepsy is focal cortical dysplasia (FCD). FCD is challenging to visualize and often considered magnetic resonance imaging (MRI) negative. Existing automated methods for FCD detection are limited by high numbers of false-positive predictions, hampering their clinical utility.

Portable ultra-low-field magnetic resonance imaging enables postictal seizure imaging.

The detection of transient peri-ictal magnetic resonance imaging (MRI) abnormalities has been variable after epileptic seizures. The most common reason for this variability is that abnormalities may disappear if the interval between seizure and scan acquisition is prolonged using conventional high-field systems. Here, we deployed a portable ultra-low-field MRI system in the presurgical evaluation at the bedside of individuals with epilepsy.

ASSOCIATIONS BETWEEN EPILEPSY-RELATED POLYGENIC RISK AND BRAIN MORPHOLOGY IN CHILDHOOD.

Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) is associated with a complex genetic architecture, but the translation from genetic risk factors to brain vulnerability remains unclear. Here, we examined associations between epilepsy-related polygenic risk scores for HS (PRS-HS) and brain structure in a large sample of neurotypical children, and correlated these signatures with case-control findings in in multicentric cohorts of patients with TLE-HS. Imaging-genetic analyses revealed PRS-related cortical thinning in temporo-parietal and fronto-central regions, strongly anchored to distinct functional and structural network epicentres.

Resistance training protects the hippocampus and precuneus against atrophy and benefits white matter integrity in older adults with mild cognitive impairment.

Mild cognitive impairment (MCI) refers to cognitive alterations with preservation of functionality. Individuals with this diagnosis have a higher risk of developing dementia. Non-pharmacological interventions, such as physical exercise, are beneficial for the cognition of this population.

Multimodal single-cell profiling reveals neuronal vulnerability and pathological cell states in focal cortical dysplasia.

Focal cortical dysplasia (FCD) is a neurodevelopmental condition characterized by malformations of the cerebral cortex that often cause drug-resistant epilepsy. In this study, we performed multi-omics single-nuclei profiling to map the chromatin accessibility and transcriptome landscapes of FCD type II, generating a comprehensive multimodal single-nuclei dataset comprising 61,525 cells from 11 clinical samples of lesions and controls. Our findings revealed profound chromatin, transcriptomic, and cellular alterations affecting neuronal and glial cells in FCD lesions, including the selective loss of upper-layer excitatory neurons, significant expansion of oligodendrocytes and immature astrocytic populations, and a distinct neuronal subpopulation harboring dysmorphic neurons.

Basic and preclinical epilepsy research Scientists' perception of clinical epileptology.

The interaction between basic science epilepsy researchers and clinical epileptologists is a longstanding issue. Efforts to provide opportunities for a dialogue between preclinical and clinical epilepsy professionals are crucial to reduce the knowledge gap between them and improve the translational success of neurobiology-based research. The International League Against Epilepsy (ILAE) Research and Innovation Task Force circulated a survey to investigate the need for an update on new clinical epilepsy concepts within the basic science community.

A worldwide study of subcortical shape as a marker for clinical staging in Parkinson's disease.

Alterations in subcortical brain regions are linked to motor and non-motor symptoms in Parkinson's disease (PD). However, associations between clinical expression and regional morphological abnormalities of the basal ganglia, thalamus, amygdala and hippocampus are not well established. We analyzed 3D T1-weighted brain MRI and clinical data from 2525 individuals with PD and 1326 controls from 22 global sources in the ENIGMA-PD consortium.

A worldwide study of white matter microstructural alterations in people living with Parkinson's disease.

The progression of Parkinson's disease (PD) is associated with microstructural alterations in neural pathways, contributing to both motor and cognitive decline. However, conflicting findings have emerged due to the use of heterogeneous methods in small studies. Here we performed a large diffusion MRI study in PD, integrating data from 17 cohorts worldwide, to identify stage-specific profiles of white matter differences.