Volume 3 • Number 1 • Spring 2010 Neurological Institute Journal Inside: Interventional Therapies for Acute Ischemic Stroke Neurofibromatosis Type 2: Unraveling a Challenging Disorder Taking Brain Health to a Deeper and Broader Level New Developments in Tay-Sachs Disease a Free Online CMe Credit Hours • See back cover for details. Neurological Institute Journal From the Editor Dear Colleague, I am pleased to bring you the Spring 2010 issue of the UH Neurological Institute Journal. Through continuing collaboration with The commitment to exceptional patient care begins with scientists at Case Western Reserve University revolutionary discovery. University Hospitals Case Medical School of Medicine, physicians at the UH Center is the primary affiliate of Case Western Reserve Neurological Institute test and refine the University School of Medicine, a national leader in latest advances in treatment for patients with medical research and education and consistently ranked disabling neurological disorders. The NI Journal highlights these among the top research medical schools in the country advances and demonstrates our interdisciplinary strengths. As an by U.S.News & World Report. Through their faculty added benefit for our readers, CME credit is readily available in appointments at the Case Western Reserve University each issue for the busy practitioner interested in receiving AMA PRA School of Medicine, physicians at UH Case Medical Category 1 Credits™. Center are advancing medical care through innovative research and discovery that bring the latest treatment In our first issue of 2010, Shakeel Chowdhry, MD, and colleagues options to patients. review interventional therapies for acute ischemic stroke. While these new therapies could become available to a greater number of patients, a quick response to stroke symptoms and access to a qualified medical team are essential for optimal treatment. Maroun Semaan, MD, and colleagues consider the challenge of managing patients with neurofibromatosis type 2. Their article highlights recent advances in the genetics of the disorder, refinement in microsurgical techniques, and newer pharmacotherapeutic agents. Peter Whitehouse, MD, PhD, takes brain health to a deeper and broader level in pursuit of holistic health for the betterment of ourselves, our community, and the world. He explores emerging brain health programs at University Hospitals and the surrounding community. Finally, Barbara Shapiro, MD, PhD, describes the latest therapeutic techniques for managing Tay-Sachs disease. Her article gives special attention to what the future may hold for treatment of this degenerative lysosomal disorder. The NI Journal requires the time and effort of many talented individuals who strive to make each issue a valuable contribution to patient care and neuroscience. Your suggestions and comments are always welcome. Nicholas C. Bambakidis, MD Editor-in-Chief 216-844-8758 [email protected] University Hospitals Neurological Institute Journal • Spring 2010 On the cover: A middle cerebral artery clot being removed by a Penumbra Editorial BoarD device and an endovascular stent at the origin of the internal carotid artery. Read more about this case in the article by Shakeel Chowdhry and Nicholas C. Bambakidis, MD colleagues on page 2. (Illustration by Ravin Art & Design.) Director, Cerebrovascular and Skull Base Surgery UH Neurological Institute Kim Duvall, Editorial Manager University Hospitals Case Medical Center Associate Professor, Heather Sandrey, Senior Graphic Designer Department of Neurological Surgery Case Western Reserve University School of Medicine Consultant for Medtronic Sofamor Danek Volume 3 • Number 1 • Spring 2010 Alan r. Cohen, MD Surgeon-in-Chief, UH Rainbow Babies & Children’s Hospital Division Chief, Pediatric Neurological Surgery Director, Minimally Invasive Neurosurgery Center Table of Contents UH Neurological Institute University Hospitals Case Medical Center Professor, Department of Neurological Surgery 2 Interventional Therapies Case Western Reserve University School of Medicine Anthony J. Furlan, MD for Acute Ischemic Stroke Chairman, Department of Neurology Co-Director, UH Neurological Institute Shakeel A. Chowdhry, MD University Hospitals Case Medical Center Cathy A. Sila, MD Gilbert W. Humphrey Professor and Chair, Department of Neurology Kristine Blackham, MD Case Western Reserve University School of Medicine Bashar Katirji, MD Director, Neuromuscular Center UH Neurological Institute 10 Neurofibromatosis Type 2: University Hospitals Case Medical Center Professor, Department of Neurology Unraveling a Challenging Disorder Case Western Reserve University School of Medicine Maroun T. Semaan, MD Hans O. Lüders, MD Director, Epilepsy Center Nicholas C. Bambakidis, MD UH Neurological Institute Georgia L. Wiesner, MD University Hospitals Case Medical Center Professor, Department of Neurology Lisa R. Rogers, DO Case Western Reserve University School of Medicine Cliff A. Megerian, MD David C. Preston, MD Program Director, Neurology Residency UH Neurological Institute University Hospitals Case Medical Center Taking Brain Health to a Professor, Department of Neurology 17 Case Western Reserve University School of Medicine Deeper and Broader Level David e. riley, MD Director, Movement Disorders Center Peter Whitehouse, MD, PhD UH Neurological Institute University Hospitals Case Medical Center Professor, Department of Neurology Case Western Reserve University School of Medicine 23 New Developments in Tay-Sachs Disease Mark S. Scher, MD Division Chief, Neurology Barbara E. Shapiro, MD, PhD UH Rainbow Babies & Children’s Hospital Director, Rainbow Neurological Center UH Neurological Institute University Hospitals Case Medical Center Professor, Department of Pediatric Neurology Case Western Reserve University School of Medicine Warren r. Selman, MD Director, UH Neurological Institute University Hospitals Case Medical Center The Harvey Huntington Brown Jr. Professor and Chair, Department of Neurological Surgery Neurological Institute Physician Advice Line Case Western Reserve University School of Medicine robert W. Tarr, MD 216-844-1001 Section Chief, Neuroradiology Associate Director, UH Neurological Institute University Hospitals Case Medical Center Appointment request Line Professor, Department of Neuroradiology Case Western Reserve University School of Medicine 216-844-2724 Consultant for Philips, Cordis and Boston Scientific Dr. Bambakidis is a consultant for Medtronic Sofamor Danek. UHhospitals.org/neuro Dr. Furlan is a consultant with NMT Medical Inc. and a member of the speakers bureaus for Bristol-Myers Squibb Co. and Sanofi-aventis, but receives no direct payments from any commercial entity related to articles in this publication. Dr. RIley has received research support from Teva and is on the University Hospitals Neurological Institute speakers bureau of Allergen, Solstice and Teva. Dr. Tarr is a consultant for Philips, Cordis and Boston Scientific. Other University Hospitals Neurological Institute is Northeast Ohio’s first designated institute editorial board members report no financial relationships related to articles appearing in this issue of the Neurological for the comprehensive care of patients with diseases affecting the nervous system. The Institute Journal. institute comprises 16 Centers of Excellence, which bring together some of the country’s foremost experts in neurology, neurosurgery, neuroradiology, neuro-oncology, neuro- ophthalmology, neurotology, neuropathology, neuropsychology, neuropsychiatry and related specialties. The UH Neurological Institute offers an interdisciplinary approach to highly individualized therapies and offers leading-edge care, including stereotactic radiosurgery, endovascular stroke and aneurysm treatments, neurostimulation and artificial disc replacement. Interventional Therapies for Acute Ischemic Stroke By Shakeel A. Chowdhry, MD NIH Stroke Scale Item Scoring Definition 1a. LOC 0 – alert and responsive Cathy A. Sila, MD 1 – arousable to minor stimulation 2 – arousable only to painful stimulation Kristine Blackham, MD 3 – unarousable or only reflex response 1b. LOC questions 0 – both correct 1 – one correct, or unable to speak but not aphasic Stroke is the third leading cause 2 – neither correct (aphasic, stuporous) 1c. Commands – Open/close eyes, 0 – both correct, ok if weak Grip/release hand 1 – one correct of death in the United States after 2 – neither correct 1 2. Best gaze – Voluntary or Doll’s 0 – normal cardiovascular disease and cancer. 1 – partial gaze palsy Approximately 700,000 people suffer 2 – forced deviation not overcome by Doll’s 3. Visual field – To confront or threat, 0 – normal 2 if monocular score one eye 1 – partial hemianopia, extinction a stroke each year. The vast majority 2 – complete hemianopia 3 – bilateral hemianopia or cortical blindness – 87% or five out of every six – are 4. Facial palsy 0 – normal 1 – asymmetric smile, NLF flattening ischemic strokes and result when a 2 – partial paralysis of lower face (UMN) 3 – complete paralysis upper and lower face reduction in blood flow to part of 5. Motor Arm – outstretched 90° 0 – no drift sitting or 45° supine for 10 sec 1 – drift, doesn’t hit bed the brain leads to irreversible injury 5a – Left, 5b – Right 2 – some antigravity can’t sustain 3 – not antigravity, falls to bed or infarction. Stroke is a major public 4 – no movement at all 6. Motor Leg – outstretched 30° 0 – no drift supine for 5 sec 1 – drift, doesn’t hit bed health concern. As one of