Abstract
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.
Highlights
Juvenile myoclonic epilepsy (JME, Janz syndrome) is a genetic generalized epilepsy (GGE) syndrome with a prevalence of 5–11% among all epilepsies [1, 2]
The aim of this study was to identify microstructural abnormalities in juvenile myoclonic epilepsy (JME) compared to healthy controls and between the subgroups of photoparoxysmal responses (PPR) positive and negative JME patients using tract-based spatial statistics (TBSS)
Patients were considered as PPR positive if epileptiform discharges only occurred in response to intermittent photic stimulation (PS); PPRs were classified according to classification scheme by Waltz et al[14] Clinical data were collected by reviewing the medical records and during an interview
Summary
Juvenile myoclonic epilepsy (JME, Janz syndrome) is a genetic generalized epilepsy (GGE) syndrome with a prevalence of 5–11% among all epilepsies [1, 2]. Microstructural Abnormalities in JME Using TBSS electroencephalography (EEG) characteristically shows generalized spikes and poly-spike waves ≥3 Hz [1, 3]. About 30% of patients with JME show photoparoxysmal responses (PPR), defined as the occurrence of spikes, poly-spike-waves or repetitive spikes in the EEG in response to intermittent photic stimulation (PS) [4, 5]. 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
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