Juvenile Myoclonic Epilepsy Shows Potential Structural White Matter Abnormalities: A TBSS Study

Domín, Martin; Bartels, Sabine; Geithner, J.; Wang, Irène; Runge, Uwe; Grothe, Matthias; Langner, Soenke; Podewils, Felix von

doi:10.3389/fneur.2018.00509

Cited by 12 publications

(10 citation statements)

References 32 publications

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“…At present, some studies on frontal lobe focal motor epilepsy have shown that the FA and MD values of the bilateral suboccipital frontal tract, bilateral anterior thalamus radiation, bilateral corticospinal tract, and bilateral inferior fronto-occipital fasciculus have abnormal changes [ 36 ]. In our study, the abnormalities in the ipsi-tumoral cingulum and uncinate fasciculus fiber tracts were consistent with the former report, except for the frontal part of the corpus callosum.…”

Section: Discussionmentioning

confidence: 99%

“…In our study, the abnormalities in the ipsi-tumoral cingulum and uncinate fasciculus fiber tracts were consistent with the former report, except for the frontal part of the corpus callosum. Since the increase in the MD value of the fiber tracts indicates the destruction of the sphingomyelin layer or a decrease in the axon density [ 36 , 37 ], the MD indicates the viscosity of the fluid and is sensitive to white matter edema or damage [ 38 ]. It is known that such damage to the white matter skeleton plays an important role in the occurrence of epilepsy [ 39 , 40 , 41 , 42 ]; therefore, we consider that the occurrence of frontal lobe epilepsy related to glioma might be associated with damage to the fiber tracts above.…”

Section: Discussionmentioning

confidence: 99%

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Characteristics of Microstructural Changes Associated with Glioma Related Epilepsy: A Diffusion Tensor Imaging (DTI) Study

et al. 2022

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(1) Background: Glioma is the most common primary tumor in the central nervous system, and glioma-related epilepsy (GRE) is one of its common symptoms. The abnormalities of white matter fiber tracts are involved in attributing changes in patients with epilepsy (Rudà, R, 2012).This study aimed to assess frontal lobe gliomas’ effects on the cerebral white matter fiber tracts. (2) Methods: Thirty patients with frontal lobe glioma were enrolled and divided into two groups (Ep and nEep). Among them, five patients were excluded due to apparent insular or temporal involvement. A set of 14 age and gender-matched healthy controls were also included. All the enrolled subjects underwent preoperative conventional magnetic resonance images (MRI) and diffusion tensor imaging (DTI). Furthermore, we used tract-based spatial statistics to analyze the characteristics of the white matter fiber tracts. (3) Results: The two patient groups showed similar patterns of mean diffusivity (MD) elevations in most regions; however, in the ipsilateral inferior fronto-occipital fasciculus (IFOF), superior longitudinal fasciculus (SLF), and superior corona radiata, the significant voxels of the EP group were more apparent than in the nEP group. No significant fractional anisotropy (FA) elevations or MD degenerations were found in the current study. (4) Conclusions: Gliomas grow and invade along white matter fiber tracts. This study assessed the effects of GRE on the white matter fiber bundle skeleton by TBSS, and we found that the changes in the white matter skeleton of the frontal lobe tumor-related epilepsy were mainly concentrated in the IFOF, SLF, and superior corona radiata. This reveals that GRE significantly affects the white matter fiber microstructure of the tumor.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Characteristics of Microstructural Changes Associated with Glioma Related Epilepsy: A Diffusion Tensor Imaging (DTI) Study

et al. 2022

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“…181 Another study compared 31 patients with JME (12 PPR positive) and 27 healthy controls matched for age/sex also using TBSS. 182 These authors showed reduced FA in longitudinal fasciculus, inferior fronto-occipital fasciculus, corticospinal tract, anterior and posterior thalamic radiation, corona radiata, corpus callosum, cingulate gyrus, and external capsule. However, subgroup analysis revealed no significant differences of white matter alterations between PPR positive and negative patients and with clinical and epilepsy-related factors.…”

Section: Brain Imaging and Photosensitivitymentioning

confidence: 94%

“…Yet another study conducted tract‐based spatial statistics (TBSS) analysis in 8 patients with photosensitive epilepsy (PSE) and 16 age‐/sex‐matched healthy individuals; PSE participants had significantly lower FA values in the corpus callosum 181 . Another study compared 31 patients with JME (12 PPR positive) and 27 healthy controls matched for age/sex also using TBSS 182 . These authors showed reduced FA in longitudinal fasciculus, inferior fronto‐occipital fasciculus, corticospinal tract, anterior and posterior thalamic radiation, corona radiata, corpus callosum, cingulate gyrus, and external capsule.…”

Section: Photic Eeg and Imagingmentioning

confidence: 99%

Visually sensitive seizures: An updated review by the Epilepsy Foundation

et al. 2022

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Light flashes, patterns, or color changes can provoke seizures in up to 1 in 4000 persons. Prevalence may be higher because of selection bias. The Epilepsy Foundation reviewed light-induced seizures in 2005. Since then, images on social media, virtual reality, three-dimensional (3D) movies, and the Internet have proliferated. Hundreds of studies have explored the mechanisms and presentations of photosensitive seizures, justifying an updated review. This literature summary derives from a nonsystematic literature review via PubMed using the terms "photosensitive" and "epilepsy." The photoparoxysmal response (PPR) is an electroencephalography (EEG) phenomenon, and photosensitive seizures (PS) are seizures provoked by visual stimulation. Photosensitivity is more common in the young and in specific forms of generalized epilepsy. PS can coexist with spontaneous seizures. PS are hereditable and linked to recently identified genes. Brain imaging usually is normal, but special studies imaging white matter tracts demonstrate abnormal connectivity. Occipital cortex and connected regions are hyperexcitable in subjects with light-provoked seizures. Mechanisms remain unclear. Video games, social media clips, occasional movies, and natural stimuli can provoke PS.

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“…More than a dozen publications evaluated WM integrity and orientation in JME brains using diffusion tensor imaging (DTI) (Deppe et al, 2008; Keller et al, 2011; Liu et al, 2011; Vulliemoz et al, 2011; Kim et al, 2012, 2015; O’Muircheartaigh et al, 2012, 2011; Focke et al, 2014; Ekmekci et al, 2016; Gong et al, 2017; Domin et al, 2018). All of these publications reported decrease in fractional anisotropy (FA), a measure reflecting the microstructural integrity of various WM tracts.…”

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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Juvenile Myoclonic Epilepsy Shows Potential Structural White Matter Abnormalities: A TBSS Study

Cited by 12 publications

References 32 publications

Characteristics of Microstructural Changes Associated with Glioma Related Epilepsy: A Diffusion Tensor Imaging (DTI) Study

Characteristics of Microstructural Changes Associated with Glioma Related Epilepsy: A Diffusion Tensor Imaging (DTI) Study

Visually sensitive seizures: An updated review by the Epilepsy Foundation

Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy

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