Neurofibromatosis Type 1: Symptoms, Treatment and Prognosis


Matthias A. Karajannis, MD (Editor)
Department of Pediatrics, Division of Pediatric Hematology/Oncology, NYU Langone Medical Center, Hassenfeld Children’s Center for Cancer and Blood Disorders, New York, NY, USA

Jeffrey Allen (Editor)

Series: Neurology – Laboratory and Clinical Research Developments
BISAC: SCI029000

Neurofibromatosis Type 1 (NF1) is a relatively common genetic disorder that predisposes affected individuals for developing multiple tumors, predominantly neurofibromas. NF1 is caused by a loss of the tumor suppressor protein neurofibromin, which was discovered over 20 years ago. NF1 patients develop a wide spectrum of benign tumors, including in the skin, deep soft tissues and brain, as well as malignant tumors including malignant peripheral nerve sheath tumors, malignant gliomas and acute myeloblastic leukemia. NF1 patients are also at risk for a spectrum of orthopedic and neurological disorders, including bone abnormalities and speech and learning disorders.

This book, edited by Matthias Karajannis, MD, MS and Jeffrey Allen, MD, who direct the Comprehensive NF Center at NYU Langone Medical Center in New York, represents a valuable resource for both scientists and clinicians involved in NF1 research and patient care. Each chapter is written by expert authors in the field and addresses one or several specific topics in NF1 with a focus on disease biology, genetics, diagnostics and/or clinical management. The latest scientific advances in the field of NF1 are discussed, along with practical management recommendations and an outlook on future avenues of NF1 research. (Imprint: Nova Biomedical )

Table of Contents

Table of Contents

Introduction pp. i-ix

Chapter 1. Molecular Pathogenesis of Neurofibromatosis Type 1
(Ming-Jen Lee, Alton Etheridge, David J. Galas and Kai Wang, Department of Neurology and Medical Genetic, National Taiwan University School of Medicine, National Taiwan University, Taipei, Taiwan, Republic of China, and others)pp. 1-22

Chapter 2. Imaging of Plexiform Neurofibromas in Neurofibromatosis Type 1
(Eva Dombi, Nicholas Patronas and Brigitte Widemann, National Cancer Institute, Pediatric Oncology Branch, National Institutes of Health, Bethesda, MD, USA, and others)pp. 23-40

Chapter 3. Surgical Treatment of Giant Neurofibromas
(Stamatis Sapountzis, Ji Hoon Kim, Abid Rashid and Hung-Chi Chen, Department of Plastic and Reconstructive Surgery, China Medical University Hospital, Taichung, Taiwan, and others)pp. 41-52

Chapter 4. Neurofibromatosis Type 1-associated Nervous System Tumors and Current Treatment Strategies
(Nilika Shah Singhal and Sabine Mueller, University of California San Francisco, San Francisco, CA, USA)pp. 53-74

Chapter 5. Outcome Measures for Optic Pathway Gliomas
(Peter M. K. de Blank, Grant T. Liu and Michael J. Fisher, Department of Pediatrics, Case Western Reserve University School of Medicine, Cleveland, OH, USA, and others)pp. 75-100

Chapter 6. Neurofibromatosis Type 1 Bone Disease: Diagnosis and Management
(Elizabeth K. Schorry and Alvin H. Crawford, Children’s Hospital Medical Center, Cincinnati, OH, USA)pp. 101-116

Chapter 7. Cognition and Behaviour in Neurofibromatosis Type 1: Pathogenesis and Emerging Therapies
(Jonathan M. Payne, Natalie A. Pride and Kathryn N. North, Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Australia, and others)pp. 117-146

Chapter 8. Communication Disorders Associated with Neurofibromatosis Type 1
(Heather L. Thompson, David A. Stevenson, Sean M. Redmond, Bruce L. Smith and David H. Viskochil, University of Utah, Salt Lake City, UT, USA)pp. 147-168

Chapter 9. Children with Neurofibromatosis Type 1: Functioning in the Classroom
(Yafit Gilboa, Sara Rosenblum, Aviva Fattal-Valveski and Naomi Josman, Department of Occupational Therapy, Joint Program Faculty of Social Welfare & Health Sciences, University of Haifa and Technion, Haifa, Israel, and others)pp. 169-188

Index pp. 189-202

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