3 The Pathogenesis of Neurofibromatosis 1 and Neurofibromatosis 2 The neurofibromatoses are genetic disorders. NF1 and NF2 are each caused by a mutation in a known specific gene. The quest…
10 Diagnosis and OverallManagement ofNeurofibromatosis 2 The hallmark feature of neurofibromatosis 2 (NF2) is a slow-growing tumor on the eighth cranial nerve in both ears. This nerve has two branches….
12 Schwannomatosis Schwannomatosis is a newly recognized form of neurofibromatosis that is distinct from neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2), in terms of both its primary clinical features and…
11 Management of Particular Neurofibromatosis 2 Features A diagnosis of confirmed or probable neurofibromatosis 2 (NF2) raises a host of new challenges. Optimal management of the disorder depends on several…
15 Research About Neurofibromatosis Although the past decade has yielded many new insights into the genetic and molecular abnormalities that cause neurofibromatosis, many questions remain about how its manifestations develop…
14 Practical and Quality-of-Life Issues This chapter focuses on the major practical and quality-of-life aspects of living with neurofibromatosis (NF). Logistical challenges include coordinating multiple medical visits, navigating the insurance…
13 Psychosocial Impact of Neurofibromatosis Neurofibromatosis (NF) has a psychosocial impact that consists of psychological, social, economic, and quality-of-life issues. Psychosocial issues pervade the life of not only the individual…
1 Introduction and History Neurofibromatosis * is the umbrella term for three distinct genetic disorders that share a hallmark manifestation—tumor growth in the tissues that surround nerves. Most tumors are…
4 Genetics and Genetic Counseling in Neurofibromatosis 1 and Neurofibromatosis 2 Molecular genetics explains how a mutation may cause a disorder. Clinical genetics takes a somewhat different perspective: how the…
8 Cognitive Function and Learning Disabilities in Neurofibromatosis 1 Neurofibromatosis 1 (NF1) impacts brain development in ways that researchers are still trying to understand. About half of all people with…
