The face of myasthenia gravis

Myasthenia gravis (MG) is characterized by fluctuating weakness and fatigability of skeletal muscles. In most patients, extraocular and bulbar muscles are affected first, leading to diplopia, ptosis, and weakness of facial muscles.(1)We recorded the faces of 38 healthy controls and 52 patients with MG while performing a standardized set of facial expressions. These images were averaged using Python version 3.8.0. This resulted in highly similar faces with no recognizable individual features. The only discernible differences are typical clinical hallmarks of the disease: ptosis and generalized facial weakness around the eyes and mouth resulting in less vivid facial expression (figure).Neurological Motor Disorder

Increased use of illicit drugs in a Dutch cluster headache population

Paroxysmal Cerebral Disorder

The biological clock in cluster headache: A review and hypothesis

Circadian clocks in health and diseas

Common genetic variants influence human subcortical brain structures

The highly complex structure of the human brain is strongly shaped by genetic influences1. Subcortical brain regions form circuits with cortical areas to coordinate movement2, learning, memory3 and motivation4, and altered circuits can lead to abnormal behaviour and disease2. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction