Microstructural white matter changes and their relation to neuropsychological deficits in patients with juvenile myoclonic epilepsy

Knake, Susanne; Roth, Christine; Belke, Marcus; Sonntag, Jens; Knieß, Tobias; Krach, Sören; Jansen, Andreas; Sommer, Jens; Paulus, Frieder M.; Carl, Barbara; Rosenow, Felix; Hermsen, A.; Menzler, Katja

doi:10.1016/j.yebeh.2017.08.031

Cited by 13 publications

(11 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our TBSS findings indicate an involvement of large parts of the WM, predominantly comprising structures of the bilateral longitudinal fasciculus (SLF), the cortico-thalamic (corona radiata), and cortico-spinal (CST) connections, which are known to be linked with the precuneus. Conclusively, in addition to the previously described relation of widespread microstructural abnormalities and cognitive and personality characteristics in JME patients ( 28 ), our findings may lead to the hypothesis that the precuneus is part a widespread network and thereby involved in both cognitive characteristics and generalized spike-wave discharges in JME patients.…”

Section: Discussionsupporting

confidence: 80%

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

et al. 2018

View full text Add to dashboard Cite

Background: Several studies on patients with juvenile myoclonic epilepsy (JME) showed widespread white matter (WM) abnormalities in the brain. The aim of this study was to investigate potential structural abnormalities in JME patients (1) compared to healthy controls, (2) among JME subgroups with or without photoparoxysmal responses (PPR), and (3) in correlation with clinical variables.Methods: A selection of 31 patients with JME (12 PPR positive) and 27 age and gender matched healthy controls (HC) were studied at a tertiary epilepsy center. Fractional anisotropy (FA) was calculated and intergroup differences analyzed using Tract Based Spatial Statistics (TBSS).Results: Compared to HC the JME group showed reduced FA widespread and bilateral in the longitudinal fasciculus, inferior fronto-occipital fasciculus, corticospinal tract, anterior and posterior thalamic radiation, corona radiata, corpus callosum, cingulate gyrus and external capsule (p < 0.01). Subgroup analysis revealed no significant differences of WM alterations between PPR positive and negative patients and with clinical and epilepsy-related factors.Conclusions: Widespread microstructural abnormalities among patients with JME have been identified.Prior findings of frontal and thalamofrontal microstructural abnormalities have been confirmed. Additionally, microstructural abnormalities were found in widespread extra-frontal regions that may help to validate pathophysiological concepts of JME.

show abstract

Section: Discussionsupporting

confidence: 80%

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

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Most studies focused on white matter tracts given the extensive axonal myelination in this area of the brain. Diffusion tensor imaging (DTI) studies have frequently been performed in patients with IGE and suggested a potential relationship between altered diffusion properties of white matter tracts and abnormal white matter myelination (Liu et al ., 2011; Focke et al ., 2014; Qiu et al ., 2016; Knake et al ., 2017). There is evidence to suggest that diffusion scalar metrics are sensitive to myelin content (Chang et al ., 2017; Zhou et al ., 2020; Lazari and Lipp, 2021).…”

Section: Discussionmentioning

confidence: 99%

Midbrain structure volume, estimated myelin and functional connectivity in idiopathic generalised epilepsy

McKavanagh

Ridzuan-Allen

Kreilkamp

et al. 2022

Preprint

View full text Add to dashboard Cite

Background: Previous neuroimaging studies reported functional and structural impairments of the upper basal ganglia (specifically, the striatum) in idiopathic generalised epilepsy (IGE). However, these studies often overlook lower basal ganglia structures located in and adjacent to the midbrain due to poor contrast on clinically acquired volumetric T1-weighted scans. Here, we acquired 3D isotropic T1-weighted, T2-weighted and resting state functional MR images to investigate differences in volume, estimated myelin content and functional connectivity in three midbrain and midbrain-adjacent structures in patients with IGE: the substantia nigra (SN), subthalamic nuclei (SubTN) and red nuclei (RN). Methods: A total of 33 patients with IGE (23 refractory, 10 non-refractory) and 39 age and sex matched healthy controls underwent MR imaging. The SN, SubTN and RN were automatically segmented from T2-weighted images. Estimated median myelin content for each structure was determined using a previously described T1-weighted/T2-weighted ratio method. Functional connectivity analysis between midbrain structures and the rest of the brain was performed using seed-based resting state fMRI analysis and compared between participant groups using the CONN toolbox running in SPM12 (pFDR<0.05, cluster corrected). Results: An increased volume of the right RN was found in patients with IGE relative to healthy controls. Structural volumes of the right SubTN differed between patients with non- refractory and refractory IGE. No myelin alterations of midbrain structures were found in patients with IGE or between treatment outcome groups. Functional connectivity alterations were found for all midbrain regions in patients with IGE, including significantly decreased functional connectivity between the left SN and the thalamus compared to controls, and significantly increased functional connectivity observed between the right SubTN and the left superior frontal gyrus in patients with IGE relative to controls. Connectivity alterations specific to patients with non-refractory IGE were also found. Conclusion: We report volumetric and functional connectivity alterations of midbrain and lower basal ganglia structures in patients with IGE. We postulate that an increased structural volume of the RN in patients is due to increased iron deposition that impacts on T2-weighted contrast. These findings are consistent with previous experiential work demonstrating pathophysiological abnormalities of the lower basal ganglia in animal models of generalised epilepsy.

show abstract

“…Another study investigating alterations in cortical morphology in patients with JME has revealed thinning of the cortical thickness in multiple regions, including the postcentral, lingual, orbitofrontal, inferior temporal, and occipital cortices [5]. Additionally, a diffusion tensor imaging study identified widespread white matter microstructural abnormalities in patients with JME in numerous regions, including the corpus callosum, cingulate gyrus, frontal white matter, and anterior parts of the thalamus [6].…”

Section: Introductionmentioning

confidence: 99%

Altered Cerebellar Volumes and Intrinsic Cerebellar Network in Juvenile Myoclonic Epilepsy

Lee

Park

2023

Acta Neurologica Scandinavica

View full text Add to dashboard Cite

Objectives. This study is aimed at investigating the alterations in cerebellar volumes and intrinsic cerebellar network in patients with juvenile myoclonic epilepsy (JME) in comparison with healthy controls. Methods. Patients newly diagnosed with JME and healthy controls were enrolled. Three-dimensional T1-weighted imaging was conducted, and no structural lesions were found on brain magnetic resonance imaging. Cerebellar volumes were obtained using the ACAPULCO program, while the intrinsic cerebellar network was evaluated by applying graph theory using the BRAPH program. The nodes were defined as individual cerebellar volumes and edges as partial correlations, controlling for the effects of age and sex. Cerebellar volumes and intrinsic cerebellar networks were compared between the two groups. Results. Forty-five patients with JME and 45 healthy controls were enrolled. Compared with the healthy controls, the patients with JME had significantly lower volumes of the right and left cerebellar white matter (3.33 vs. 3.48%, p = 0.009 ; 3.35 vs. 3.49%, p = 0.009 ), corpus medullare (0.99 vs. 1.03%, p = 0.04 ), and left lobule V (0.19 vs. 0.22%, p = 0.002 ). The intrinsic cerebellar networks also showed significant differences between the two groups. The small-worldness index in the patients with JME was significantly lower than that in the healthy controls (0.771 vs. 0.919, p = 0.04 ). Conclusion. The cerebellar volumes and intrinsic cerebellar network demonstrated alterations in the patients with JME when compared with those of the healthy controls. Our study results provide evidence that the cerebellum may play a role in the pathogenesis of JME.

show abstract

Microstructural white matter changes and their relation to neuropsychological deficits in patients with juvenile myoclonic epilepsy

Cited by 13 publications

References 41 publications

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

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

Midbrain structure volume, estimated myelin and functional connectivity in idiopathic generalised epilepsy

Altered Cerebellar Volumes and Intrinsic Cerebellar Network in Juvenile Myoclonic Epilepsy

Contact Info

Product

Resources

About