Neurofibromatoses
About this book
The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. In recent years, the genes and mutations causing neurofibromatoses have been identified. The main types of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the NF2-related condition schwannomatosis. Many of the complex molecular mechanisms leading to the neurofibromatoses have been elucidated, resulting in a growing body of publications which are difficult to keep up with. This volume provides an important overview of recent findings on the neurofibromatoses. It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. With contributions by the foremost investigators in the field, this timely book will appeal to geneticists, genetic counselors, pediatricians, neurologists and oncologists.
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Table of contents
- Cover page
- Contents
- Editorial
- Preface
- The Neurofibromatoses: Classification, Clinical Features and Genetic Counselling
- Treatment and Management of Neurofibromatosis 1
- Neurofibromatosis Type 1 and Other Syndromes of the Ras Pathway
- NF1 Gene Structure and NF1 Genotype/Phenotype Correlations
- NF1 Mutational Spectrum
- Clinical Phenotypes in Patients with NF1Microdeletions
- Structure of the NF1 Gene Region and Mechanisms Underlying Gross NF1 Deletions
- NF1 Gene Evolution in Mammals
- Structure and Function of Neurofibromin
- Composition of Neurofibromas, NF1 Expression, and Comparison of Normal and NF1 Haploinsufficient Cells
- Somatic NF1 Mutations in Tumors and Other Tissues
- NF2: Mutations and Management of Disease
- Function of Merlin in Genesis of Tumours and Other Symptoms of NF2
- Molecular Studies on Schwannomatosis
- Author Index
- Subject Index