A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus

A 60-year-old man is presented with progressive involuntary muscle movements and neuropsychiatric symptoms who developed a variety of additional complaints over 2 years. Brain imaging revealed bilateral basal ganglia calcifications suggesting primary familial brain calcification. Analysis of the SLC20A2 gene revealed a missense mutation (c.541C>T, p.(Arg181Trp)), in silico predicted to be deleterious and not found in available databases. Segregation analysis confirmed his asymptomatic father to harbor the same mutation, though on brain imaging basal ganglia calcifications were found. This report illustrates the intrafamilial variability of the phenotype and generalized myoclonus as the presenting symptom

Chronic subthreshold cortical stimulation: A promising therapy for motor cortex seizures

Chronic subthreshold cortical stimulation (CSCS) is a form of neurostimulation consisting of continuous or cyclic, open-loop, subthreshold electrical stimulation of a well-defined epileptogenic zone (EZ). CSCS has seen limited clinical use but could be a safe and effective long-term treatment of focal drug resistant epilepsy, in particular when the EZ is located in the motor cortex. We present a case of a 49-year-old woman suffering from debilitating focal motor seizures. Treatment with CSCS resulted in significant clinical improvement, enabling her to walk unaided for the first time in years

Positioning of longest axis of the radial head in neutral forearm rotation

INTRODUCTION: The radial head has an ellipsoid shape so that a longest and a shortest axis can be defined. The aim of this study is to evaluate the position of the longest axis of the radial head (LARH) in relation to proximal radioulnar joint (PRUJ) and to the forearm in neutral position using 3D computed tomography (CT). MATERIALS AND METHODS: 3D CT reconstructions of the distal humerus, the radius and the ulna of 27 healthy volunteers (average age 27.65 ± 9.25; 24 males, 3 females) were created. First an evaluation of the elliptic form of the radial head and the location of its longest axis was performed. Next, three planes were defined: the PRUJ plane, the forearm plane and a neutral plane. Based on the angle between the forearm plane and the neutral plane, the rotation of the scanned forearm was measured. Taking this rotation into account, the position of the LARH compared to PRUJ plane and forearm plane in neutral position is recalculated. RESULTS: The shape of the radial head is determined to be non-circular based on this study population (p < .001). In neutral position, the angle between the LARH and the forearm plane is 5.28° (SD: 15.09) and between the LARH and the PRUJ is 33.46° (SD: 13.91). CONCLUSIONS: The position of the LARH is found to be approximately perpendicular to the forearm plane when the forearm is in neutral position and perpendicular to the PRUJ plane when the forearm is on average in 30° of pronation