Altered intrinsic brain activity in patients with familial cortical myoclonic tremor and epilepsy: An amplitude of low-frequency fluctuation study

• FCMTE patients were recruited to investigate ALFF during resting-state fMRI.
• Frontal lobe and PCC impairment may relate to the epileptic activity in FCMTE.
• ALFF in the frontal lobe is positively correlated with the duration of tremor.

PurposeTo investigate localized cerebral function abnormalities in patients with familial cortical myoclonic tremor and epilepsy (FCMTE) using resting-state functional magnetic resonance imaging (fMRI).MethodsSeven patients with FCMTE from a Chinese family, seven patients with essential tremor (ET), and ten healthy controls were recruited. Amplitude of low-frequency fluctuation (ALFF) analysis was utilized to reveal the potential functional changes in patients with FCMTE.ResultsSignificant differences in the bilateral frontal lobe and fusiform gyrus among the three groups were revealed by one-way analysis of variance (ANOVA). The t-tests between groups were performed to compare ALFF in these ROIs. The FCMTE subjects exhibited decreased ALFF in the right fusiform gyrus and posterior cingulate cortex (PCC) with increased ALFF in the frontal lobe, compared with the ET and healthy control groups. Furthermore, the ALFF in the frontal lobe was positively correlated with the duration of tremor in patients with FCMTE and ET.ConclusionThese findings suggest that frontal cortex and PCC impairment might be related to the epileptic activity and that the abnormality of the fusiform gyrus may be associated with impairment of visuospatial in FCMTE. Due to the positive correlation between the duration of tremor and ALFF in the frontal lobe, changes in the frontal lobe could be a potential indicator of a candidate causative gene for FCMTE.