Developmental origins of cortical hyperexcitability in Huntington's disease: Review and new observations.

Huntington's disease (HD), an inherited neurodegenerative disorder that principally affects striatum and cerebral cortex, is generally thought to have an adult onset. However, a small percentage of cases develop symptoms before 20 years of age. This juvenile variant suggests that brain development may be altered in HD. Indeed, recent evidence supports an important role of normal huntingtin during embryonic brain development and mutations in this protein cause cortical abnormalities. Functional studies also demonstrated that the cerebral cortex becomes hyperexcitable with disease progression. In this review, we examine clinical and experimental evidence that cortical development is altered in HD. We also provide preliminary evidence that cortical pyramidal neurons from R6/2 mice, a model of juvenile HD, are hyperexcitable and display dysmorphic processes as early as postnatal day 7. Further, some symptomatic mice present with anatomical abnormalities reminiscent of human focal cortical dysplasia, which could explain the occurrence of epileptic seizures in this genetic mouse model and in children with juvenile HD. Finally, we discuss recent treatments aimed at correcting abnormal brain development.

Telemedicine in Neurology: Challenges and Opportunities.

Objective: Our objective is to explore challenges encountered by neurologists with the use of telemedicine in neurology. Methods: A cross- sectional study via an anonymous survey to explore neurologists' experiences with telemedicine. They survey was sent to randomly selected 200 participants from Academic Institutions in the United States. Descriptive statistics were reported as percentages for each survey question. Results: 110 neurologists completed the survey. Fifty-one percent of neurologists stated that they experienced technological issues in (1%-20%) of telemedicine visits and 57% of neurologists needed technological assistance from informational technology support. With regards to the impact of limited neurological examination via telemedicine, 34% of neurologists agreed that the limited examination makes them worried that they are providing a suboptimal care to patients and 55% recommended a subsequent in-person visit (in 1%-20% of telemedicine visits) for further evaluation. Among the challenges that hindered patients' ability to participate in telemedicine visits, 95% of neurologists rated patients' technological challenges with setting up telemedicine to be the most common issue encountered, 37% of neurologists rated patient's cognitive/mental disability to be the second most common challenge to complete telemedicine visits as well as availability of interpreter services for non-English speaking patients. Neurologists rated improving administrative support (39%), integration of EMR for video and telephone calls (37%), and sufficient time allotment to complete telemedicine visits (27%) to be the most important issues to address to optimize the use of telemedicine in neurology. Significance: Potential opportunities to improve neurologists' experiences in telemedicine include improving technological support, integration of virtual platforms within the EMR, and adequate administrative support. Patients with cognitive/physical disabilities may need additional support to engage in the health system via telemedicine.