Neurofibromatosis: Phenotype, Natural History, and Pathogenesis,

This is the third edition of a very reputable book that was first written by Vincent Riccardi and Jan Eichner in 1986, prior to the molecular explosion in human genetics. The first edition represented the most comprehensive review of neurofibromatosis (NF) literature at that time, with proposed categorization based on the variable expression seen in these disorders. The second edition (written by Riccardi in 1992) was also a seminal volume, in terms of medical literature review by organ system, insight about underlying mechanisms, and information about the newly cloned NF1 gene. For the third edition, Dr. Riccardi is joined by three well-respected physician-scientists (Jan Friedman, David Gutmann, and Mia MacCollin) as editors. This edition is a welcome update, but it has diverged in format. Instead of one author writing multiple sections based mostly on organ systems, the medical information is somewhat reorganized into chapters written by contributing authors, all of whom are active, established investigators (and, in nearly all cases, physicians) in NF. This altered structure was likely necessary because of the vast increase in knowledge in the NF1 and NF2 fields. To include this new information, the pages devoted to clinical descriptions have been reduced, to focus on the most important and well-described medical aspects of NF; however, coverage of the relevant genetic and cell biology advances in both NF1 and NF2 has increased. Furthermore, in the second edition, all the references were listed together alphabetically at the back of the book, providing a single, large literature-search listing. In the third edition, the references are placed at the end of each chapter, which is traditional for multiauthored books but not quite as helpful for some uses. It is very difficult for any physician or investigator to be familiar with all the NF1 and NF2 literature, since there are literally hundreds of articles, across the spectrum of work, being published each year. Overall, the authors do a creditable job of referencing and summarizing the most current and medically relevant progress, given that, because of space issues, only a portion of the relevant NF literature can be discussed.

This volume provides excellent illustrations of clinical features and clinical and scientific data. Some of the chapters offer “future directions” (or similar reference to needs and directions of clinical and basic research). These paragraphs provide an insightful overview on what is known and what we need to know. lso included are recommendations from clinical task forces that have been created to specifically study areas such as pilocytic astrocytoma (optic-pathway glioma) in NF1. Recent clinical data from NF databases, which contain information from many patients, are provided to add to the current literature and to increase confidence in clinically relevant statistics, such as frequencies of features and severity. Thus, this book will likely be widely used by physicians in all specialties, as the most current guideline for clinical management of NF and as a source for finding further information. To summarize the current understanding of cognitive deficits in NF1, an understanding that is greatly expanded compared with the prior edition, the chapter by Kathryn North draws cognitive and molecular/pathogenetic/animal model data together. This will benefit researchers as well as professionals such as psychologists and educators. Investigators in the many areas of NF1 and NF2 research will also find this to be a useful reference, since it is the most up-to-date publication bringing together clinical data and basic science knowledge. There are a few other helpful touches, such as David Viskochil's glossary at the end of the NF1-gene chapter. Although this work is not primarily intended for a lay audience, some features were designed for the public (e.g., the Appendix lists resources [including Web sites] for patients). Given both the relatively high frequency of NF in the general population and the increasing recognition of and interest in these disorders, this book will effectively serve both professionals and patients.