February 7, 2013
One of the most exciting things to come out of our Long-Range Planning Committee discussions last month in Dallas was a decision to pay even closer attention to our mission as "a professional society of academic neurologists and neuroscientists devoted to advancing the goals of academic neurology."
It's that broader mission to serve research that led us to expand our membership eligibility to include Ph.D. neuroscientists, so now ANA membership is open to all faculty members of accredited Departments of Neurology and Neuroscience. Our new goal is to grow our membership and build organizational strength, which will in turn foster greater collaboration between neurologists and neuroscientists, and ultimately better advance the goals of translational science. That is part of our mission.
We are extremely excited about offering ANA membership to neuroscientists. I hope you'll agree that we can all benefit from pooling our resources and working together!
Eva L. Feldman, MD, PhD, FAAN, FANA
January 3, 2013
Happy New Year from Ann Arbor! While it's certainly true that 2012 was a big year for the ANA, 2013 promises to be even bigger. That's because so many of the fantastic ideas you've shared will actually take shape this year and help transform the ANA into the "go-to" organization for academic neurology.
What that effort looks like moving forward will largely be determined later this month, when the ANA's Long-Range Planning Committee meets in Dallas to lay out the organization's five-year plan. It's a critically important meeting that will give shape to the new, bigger ANA, and set its course for years to come. All the big ideas generated in the past year will begin turning into measurable actions designed to give academic neurologists better tools with which to advance their careers. We'll set the organization's goals and lay out a framework for reaching them.
If you have ideas that you'd like to share with the Long Range Planning Committee, now is the time to speak up! Just contact any of the committee's members -- Petra Kaufmann, Rebecca Gottesman, Clifton Gooch, Justin McArthur, Frances Jensen, Mark Mehler, Bill Mobley and Steve Hauser -- or anyone on the Executive Council. You can also submit your comments here. We welcome all ideas for helping the ANA work for you, so please let us hear your thoughts.
Eva L. Feldman, MD, PhD, FAAN, FANA
Annals of Neurology President's Selection:
My selection this month for a highlighted article from the Annals of Neurology comes from Samuel F. Berkovic , AM, MD, FAA, FRACP, FRS. As Director of the Epilepsy Research Centre in Melbourne, Australia, Dr. Berkovic's areas of research include the genetics of epilepsy, as well as drug therapy, neuroimaging, surgical treatment and management of new onset epilepsy. Dr. Berkovic is also Director of the Comprehensive Epilepsy Program at Austin Health, Scientific Director of the Brain Research Institute, Laureate Professor in the Department of Medicine, Austin Health/Northern Health, University of Melbourne, Adjunct Chair in the Department of Neurology and Neurosurgery at McGill University in Montreal, Honorary Neurologist at the Royal Children's Hospital in Melbourne, and Past President of the Epilepsy Society of Australia.
GLUT1-deficiency in the idiopathic generalized epilepsies
Ann Neurol 2012;72(5): 807-815.
Idiopathic generalized epilepsies (IGE) are common seizure disorders that exhibit high heritability and complex genetic inheritance. Although rare, previous studies linked mutations in SLC2A1 resulting in glucose transporter 1 (GLUT1) deficiency to encephalopathy, and more recently, GLUT1 deficiency has been identified in families with epilepsy and the movement disorder paroxysomal exertional dyskinesia (PED), suggesting a possible spectrum of GLUT1-associated epilepsy conditions. The incidence of SLC2A1 mutations in IGE, however, is unknown. In this month's issue of Annals of Neurology, Dr. Samuel Berkovic examined a cohort of 504 IGE patients and 470 controls for the presence of SLC2A1 mutations. Sequencing results identified 9 novel SLC2A1 variants in the IGE cohort, and 1 novel variant in the control population. Functional analyses of these variants demonstrated that 7 of the variants (7/504 = 1.4%) identified in the IGE cohort significantly impacted glucose transport, while the remaining variants in the IGE cohort and the control individuals did not. Furthermore, sequencing and phenotypic analyses of available family members identified dominant or variable inheritance patterns. Despite this inheritance complexity, the presence of SLC2A1 mutations in over 1% of the IGE cases examined indicates that impaired glucose transport may be a novel player in IGE pathogenesis, and that SLC2A1 sequencing may be indicated in IGE patients as it could have important treatment implications.