Neurology
-
Deep brain stimulation (DBS) of the ventral intermediate nucleus of thalamus (VIM) is a treatment option in medically intractable tremor, such as essential tremor or tremor-dominant Parkinson disease (PD). Although functional studies demonstrated modulation of remote regions, the structural network supporting this is as yet unknown. In this observational study, we analyzed the network mediating clinical tremor modulation. ⋯ Patients undergoing DBS provide a unique opportunity to assess an electrophysiologically defined seed region in human thalamus, a technique that is usually restricted to animal research. In the future, preoperative tractography could aid with stereotactic planning of individual subcortical target points for stimulation in tremor and in other disease entities.
-
RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim was to clarify the correlation between the RNF213 genotype and MMD phenotype. ⋯ The homozygous c.14576G>A variant in RNF213 could be a good DNA biomarker for predicting the severe type of MMD, for which early medical/surgical intervention is recommended, and may provide a better monitoring and prevention strategy.
-
Brain arteriovenous malformations (AVMs) often present with epileptic seizures, but prospective data on the risk of seizures with respect to morphologic AVM characteristics are scarce. ⋯ Our study suggests that seizures mainly occur in AVMs with superficial drainage. Other predisposing factors include male sex, increasing AVM size, and frontal lobe and arterial borderzone location. Whether or not interventional treatment has an effect on the long-term risk of epilepsy remains to be determined.