January 01, 2019
Volume 76, Issue 1
Familial Trigeminal Neuralgia Cases Implicate Genetic Factors in Disease Pathogenesis
Trigeminal neuralgia (TN), characterized by brief, recurrent paroxysms of lancinating pain in the distribution of 1 or more branches of the trigeminal nerve (fifth cranial nerve [CN V]), is one of the most common, severe, and likely overdiagnosed forms of neuropathic pain. For decades, neurosurgical dogma has stressed the role of neurovascular compression (NVC) of the centrally myelinated portion of the cisternal segment of CN V in disease...
February 06, 2019
Volume 101, Issue 3
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
Normal vascular development includes the formation and specification of arteries, veins, and intervening capillaries. Vein of Galen malformations (VOGMs) are among the most common and severe neonatal brain arterio-venous malformations, shunting arterial blood into the brain's deep venous system through aberrant direct connections. Exome sequencing of 55 VOGM probands, including 52 parent-offspring trios, revealed enrichment of rare...
April 01, 2019
Volume 25, Issue 4
EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease
Recent whole exome sequencing studies in humans have provided novel insight into the importance of the ephrinB2-EphB4-RASA1 signaling axis in cerebrovascular development, corroborating and extending previous work in model systems. Here, we aim to review the human cerebrovascular phenotypes associated with ephrinB2-EphB4-RASA1 mutations, including those recently discovered in Vein of Galen malformation...