LAUSR

Study Objectives To identify structural and/or metabolic alterations in patients with sleep-related hypermotor epilepsy (SHE) using magnetic resonance imaging (MRI) and proton MR spectroscopy (1H-MRS). Methods Nineteen SHE patients (seven males; 34.7 ± 9.7 years, mean age ± standard deviation) and 17 matched healthy volunteers (seven males; 34.0 ± 8.9 years) were included in the study. In all patients, the diagnosis of SHE was confirmed by video-polysomnographic recording of seizures. Semiology, seizure frequency, and therapy were assessed for all patients. For each recruited participant, structural MRI and 1H-MRS sequences were acquired. 1H-MRS was performed on two regions of interest: the medial thalamus and the anterior cingulate gyrus. Results At examination, five patients were seizure free. In the remainder, seizure frequency ranged from yearly to multiple episodes per night. Brain MRI was normal in all patients but one. The ratio of N-acetyl-aspartate/Creatine (NAA/Cr) was significantly reduced in the anterior cingulate cortex in patients compared to controls (p < .05). Thalamic NAA/Cr showed no differences between patients and controls. Regression analysis showed that NAA/Cr in the anterior cingulate gyrus correlated with seizure frequency (p < .05), being lower in patients with higher seizure frequency. Conclusions Given the absence of structural MR changes, our 1H-MRS data point to a functional NAA reduction in the cingulate cortex of SHE patients, more severe in those patients with higher seizure frequency and thus supporting the involvement of the anterior mesial structures in the pathophysiology of SHE.