Author Interviews, Neurological Disorders, Ophthalmology, Pediatrics / 23.11.2016 Interview with: Marius George Linguraru, DPhil, MA, MB Principal Investigator Associate Professor of Pediatrics and Radiology George Washington University School of Medicine and Health Sciences Children’s National Health System Washington, DC What is the background for this study? What are the main findings? Response: Neurofibromatosis type 1 (NF1) is the most common cancer predisposition syndrome affecting the central nervous with an incidence of one in 3,000 births. Nearly one in five children with NF1 develops an optic pathway glioma (OPG), a low-grade tumor of the anterior visual pathway (i.e., optic nerves, chiasm and tracts). These tumors are not amenable to surgical resection and can cause permanent vision loss ranging from a mild decline in visual acuity to complete blindness. Only half of children with NF1-OPGs will experience vision loss, typically between 1 to 6 years of age. The other half will never lose vision or require treatment. All previous studies have consistently demonstrated that the change in NF1-OPG size is not related to the clinical outcome. For example, the optic pathway glioma size may be stable or even decrease, yet the vision will decline. Alternatively, the OPG size may increase, yet the clinical outcome remains stable or even improves. As no imaging or clinical features can identify which children with NF1-OPGs will ultimately lose vision, clinicians struggle to follow these children and decide when to intervene. We used quantitative imaging technology to accurately assess in magnetic resonance imaging (MRI) the total volume of OPGs in NF1. We also determined the retinal nerve fiber layer thickness in these children, a measure of axonal degeneration and an established biomarker of visual impairment. The results were outstanding, as we showed for the first time that the volume of an optic pathway glioma is indeed correlated with the likelihood of vision loss in children with Neurofibromatosis type 1. (more…)
Author Interviews, Cognitive Issues, Erasmus, Statins / 25.11.2013

Prof Ype Elgersma PhD Professor, Neuroscience Neuroscience Institute, Erasmus University Rotterdam Rotterdam, Interview with: Prof Ype Elgersma PhD Professor, Neuroscience Neuroscience Institute, Erasmus University Rotterdam Rotterdam, Netherlands What are the main findings of the study? Answer: Research in genetic mouse models suggested that inhibition of HMG-CoA-reductase by statins might ameliorate the cognitive and behavioral phenotype of children with Neurofibromatosis type 1 (NF1), an autosomal dominant disorder. In a 12-month randomized placebo-controlled study including 84 children with NF1, we found that simvastatin, an inhibitor of the HMG-CoA-reductase pathway had no effect on full-scale intelligence, attention problems or internalizing behavioral problems, or on any of the secondary outcome measures. (more…)