Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism.

Purpose: Unverricht-Lundborg disease (EPM1) is a rare type of inherited progressive myoclonic epilepsy resulting from mutations in the cystatin B gene, CSTB, which encodes a cysteine cathepsin inhibitor. Cystatin B, cathepsin K, and altered osteoclast bone resorption activity are interconnected in vitro. This study evaluated the skeletal characteristics of patients with EPM1.

Effect of individual anatomy on resting motor threshold-computed electric field as a measure of cortical excitability.

Introduction: Transcranial magnetic stimulation (TMS) is used for assessing the excitability of cortical neurons and corticospinal pathways by determining the subject-specific motor threshold (MT). However, the MT is dependent on the TMS instrumentation and exhibits large variation. We hypothesized that between-subject differences in scalp-to-cortex distance could account for the variation in the MT.