Neurofibromatoses

Front Cover
Dieter Kaufmann
Karger Medical and Scientific Publishers, 2008 - Medical - 192 pages
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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Contents

Classification Clinical Features and Genetic Counselling
1
Treatment and Management of Neurofibromatosis 1
21
Neurofibromatosis Type 1 and Other Syndromes of the Ras Pathway
32
NF1 Gene Structure and NF1 GenotypePhenotype Correlations
46
NF1 Mutational Spectrum
63
Clinical Phenotypes in Patients with NF1Microdeletions
78
Structure of the NF1 Gene Region and Mechanisms Underlying Gross NF1 Deletions
89
NF1 Gene Evolution in Mammals
103
Composition of Neurofibromas NF1 Expression and Comparison of Normal and NF1 Haploinsufficient Cells
129
Somatic NF1 Mutations in Tumors and Other Tissues
143
Mutations and Management of Disease
154
Function of Merlin in Genesis of Tumours and Other Symptoms of NF2
167
Molecular Studies on Schwannomatosis
177
Author Index
189
Subject Index
190
Copyright

Structure and Function of Neurofibromin
113

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