Grey and White Matter Alterations in Juvenile Myoclonic Epilepsy: A Comprehensive Review

Kim, Ji Hyun

doi:10.14581/jer.17013

Cited by 23 publications

(15 citation statements)

References 102 publications

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“…FA measures the degree of anisotropy of a diffusion process, with decreased values reflecting reduced microstructural integrity in the white matter tracts. FA is directly affected by the content of myelin in the white matter (87), and myelination is, as we remember, an important component of brain maturation in adolescence.…”

Section: Pathophysiology and Geneticsmentioning

confidence: 97%

Psychosocial complications in juvenile myoclonic epilepsy

Syvertsen

Selmer

Enger

et al. 2019

Epilepsy & Behavior

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Juvenile myoclonic epilepsy (JME) constitutes about 10% of all epilepsies. Because of executive dysfunction, people with JME may be prone to impulsivity and risk-taking behavior. Our aim was to investigate whether psychosocial issues associated with impulsivity are more prominent in people with JME than in those with other types of genetic generalized epilepsy (GGE). Patients with GGE were recruited retrospectively through the Drammen Hospital records in Buskerud County, Norway, 1999-2013. They were invited to a semi-structured interview, either at the hospital or at home. Ninety-two patients with JME and 45 with other types of GGE were interviewed. Variables were evaluated in terms of their association with JME versus other GGE diagnosis using a logistic regression model. Juvenile myoclonic epilepsy was associated with use of illicit recreational drugs and police charges, although with borderline significance (odds ratio [OR] 3.4, p = 0.087 and OR 4.2, p = 0.095); JME was also associated with being examined for attention-deficit hyperactivity disorder (ADHD) in females (OR 15.5, p = 0.015), a biological parent with challenges like addiction or violent behavior (OR 3.5, p = 0.032), and use of levetiracetam (OR 5.1, p = 0.014). After controlling for group differences, we found psychosocial complications to be associated with JME, potentially influencing the lives of the individuals and their families to a greater extent than the seizures per se. Thus, JME should be considered a disorder of the brain in a broader sense than a condition with seizures only.

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Section: Pathophysiology and Geneticsmentioning

confidence: 97%

Psychosocial complications in juvenile myoclonic epilepsy

Syvertsen

Selmer

Enger

et al. 2019

Epilepsy & Behavior

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“…The most reproducible observation made on JME brains using VBM is the decreased volume of the thalamus; it has been reported in 10 studies. However, the atrophied region of the thalamus is not always the same [see (Kim, 2017) for a review]. Three studies reported volume reduction of the hippocampus (Woo et al, 2006; Lin et al, 2013; Kim et al, 2015) but one did not (Saini et al, 2013).…”

Section: Neuroimaging Analysis and Neuropathologymentioning

confidence: 99%

Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy

Gilsoul

Grisar

Delgado‐Escueta

et al. 2019

Front. Cell. Neurosci.

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Juvenile myoclonic epilepsy (JME), a lifelong disorder that starts during adolescence, is the most common of genetic generalized epilepsy syndromes. JME is characterized by awakening myoclonic jerks and myoclonic-tonic-clonic (m-t-c) grand mal convulsions. Unfortunately, one third of JME patients have drug refractory m-t-c convulsions and these recur in 70–80% who attempt to stop antiepileptic drugs (AEDs). Behavioral studies documented impulsivity, but also impairment of executive functions relying on organization and feedback, which points to prefrontal lobe dysfunction. Quantitative voxel-based morphometry (VBM) revealed abnormalities of gray matter (GM) volumes in cortical (frontal and parietal) and subcortical structures (thalamus, putamen, and hippocampus). Proton magnetic resonance spectroscopy (MRS) found evidence of dysfunction of thalamic neurons. White matter (WM) integrity was disrupted in corpus callosum and frontal WM tracts. Magnetic resonance imaging (MRI) further unveiled anomalies in both GM and WM structures that were already present at the time of seizure onset. Aberrant growth trajectories of brain development occurred during the first 2 years of JME diagnosis. Because of genetic origin, disease causing variants were sought, first by positional cloning, and most recently, by next generation sequencing. To date, only six genes harboring pathogenic variants (GABRA1, GABRD, EFHC1, BRD2, CASR, and ICK) with Mendelian and complex inheritance and covering a limited proportion of the world population, are considered as major susceptibility alleles for JME. Evidence on the cellular role, developmental and cell-type expression profiles of these six diverse JME genes, point to their pathogenic variants driving the first steps of brain development when cell division, expansion, axial, and tangential migration of progenitor cells (including interneuron cortical progenitors) sculpture subtle alterations in brain networks and microcircuits during development. These alterations may explain “microdysgenesis” neuropathology, impulsivity, executive dysfunctions, EEG polyspike waves, and awakening m-t-c convulsions observed in JME patients.

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“…Visual inspection of the routine brain magnetic resonance imaging (MRI) is normal in patients with JME. However, recent advances in computational analysis have revealed focal abnormalities in the cortical and subcortical gray matter, particularly the thalamus and frontal cortex (Kim, 2017). Furthermore, studies have suggested significant alterations in the brain network of patients with JME using various modalities, such as electroencephalography (EEG) (Kim et al., 2020; Lee & Park, 2019 ), structural MRI (Lee et al., 2020; Park et al., 2017), functional MRI (Kim et al., 2014; Kim et al., 2019), and magnetoencephalography (MEG) (Krzeminski et al., 2020; Routley et al., 2020).…”

Section: Introductionmentioning

confidence: 99%

Alterations of the intrinsic amygdala‐hippocampal network in juvenile myoclonic epilepsy

Lee

et al. 2021

Brain and Behavior

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Introduction: Several lines of evidence suggest that the amygdala-hippocampus is involved in the epileptogenic network of juvenile myoclonic epilepsy (JME). The aim of this study was to investigate the alterations in the individual nuclei of the amygdala and hippocampal subfields, and the intrinsic amygdala-hippocampal network of patients with JME compared to healthy controls.Methods: This retrospective study conducted at a single tertiary hospital involved 35 patients with newly diagnosed JME, and 34 healthy subjects. We calculated the individual structural volumes of 18 nuclei in the amygdala, and 38 hippocampal subfields using three-dimensional volumetric T1-weighted imaging and FreeSurfer program. We also performed an analysis of the intrinsic amygdala-hippocampal global and local network based on these volumes using a graph theory and Brain Analysis using Graph Theory (BRAPH) program. We investigated the differences in these volumes and network measures between patients with JME and healthy controls.Results: There were no significant volume differences in the nuclei of the amygdala and hippocampal subfields between patients with JME and healthy controls. However, we found significant differences in the global network between patients with JME and healthy controls. The mean clustering coefficient was significantly decreased in patients with JME compared to healthy controls (0.473 vs. 0.653, p = .047). In addition, specific regions in the hippocampal subfields showed significant differences in the local network between the two groups. The betweenness centrality of the right CA1-head, right hippocampus-amygdala-transition area, left hippocampal fissure, left fimbria, and left CA3-head, was increased in patients with JME compared to healthy controls. Conclusion:The intrinsic amygdala-hippocampal global and local networks differed in patients with JME compared to healthy controls, which may be related to the pathogenesis of JME, and memory dysfunction in patients with JME.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Grey and White Matter Alterations in Juvenile Myoclonic Epilepsy: A Comprehensive Review

Cited by 23 publications

References 102 publications

Psychosocial complications in juvenile myoclonic epilepsy

Psychosocial complications in juvenile myoclonic epilepsy

Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy

Alterations of the intrinsic amygdala‐hippocampal network in juvenile myoclonic epilepsy

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