Altered brain activity in juvenile myoclonic epilepsy with a monotherapy: a resting-state fMRI study

Abstract

Abstract Background Juvenile myoclonic epilepsy (JME) is the most common syndrome of idiopathic generalized epilepsy. Although resting-state functional magnetic resonance imaging (rs-fMRI) studies have found thalamocortical circuit dysfunction in patients with JME, the pathophysiological mechanism of JME remains unclear. In this study, we used three complementary parameters of rs-fMRI to investigate aberrant brain activity in JME patients in comparison to that of healthy controls. Methods Rs-fMRI and clinical data were acquired from 49 patients with JME undergoing monotherapy and 44 age- and sex-matched healthy controls. After fMRI data preprocessing, the fractional amplitude of low-frequency fluctuation (fALFF), regional homogeneity (ReHo), and degree centrality (DC) were calculated and compared between the two groups. Correlation analysis was conducted to explore the relationship between local brain abnormalities and clinical features in JME patients. Results Compared with the controls, the JME patients exhibited significantly decreased fALFF, ReHo and DC in the cerebellum, inferior parietal lobe, and visual cortex (including the fusiform and the lingual and middle occipital gyri), and increased DC in the right orbitofrontal cortex. In the JME patients, there were no regions with reduced ReHo compared to the controls. No significant correlation was observed between regional abnormalities of fALFF, ReHo or DC, and clinical features. Conclusions We demonstrated a wide range of abnormal functional activity in the brains of patients with JME, including the prefrontal cortex, visual cortex, default mode network, and cerebellum. The results suggest dysfunctions of the cerebello-cerebral circuits, which provide a clue on the potential pathogenesis of JME.