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Edited by Roger N Rosenberg, Stanley B Prusiner, Salvatore DiMauro, Robert L Barchi, Eric J Nestler. Published by Butterworth Heinemann, London, 2003, £99.00 (hardcover), pp 823. ISBN 0-7506-7360-5
This is a single volume 844 page book, divided into four sections and made up of 77 chapters by 125 authors. Part I is a review of the general principles of genetic mechanisms of disease. Parts II and III cover neurological and psychiatric genetics respectively, and consist of both disease and system based chapters. Part IV is a single chapter that provides a gene map of neurological disorders. The general production values of the book are high.
The emphasis of this text is on the molecular pathogenesis of neurological and psychiatric disease, reflecting the editors’ assertion that identification of molecular pathogenesis of genetic neurological disease is “indispensable to the development of pharmacologic or gene therapy for these disorders.” As such, the text will probably be of most interest to the neurologist engaged in neurogenetic research or neurogenetic counselling, than the general neurologist requiring a text that will assist him or her in their day-to-day clinical practice. Taking the phakomatoses as an example, whilst neurofibromatosis 1 and tuberous sclerosis complex are adequately covered, neurofibromatosis 2 and Von Hippel-Lindau disease are only briefly considered, with little mention of genetic management such as the relevance of mutation analysis, counselling, or screening protocols for affected or at-risk family members. Similarly, other tricky clinical areas such as seizures associated with inherited metabolic defects are not really written with the jobbing neurologist in mind, but in keeping with the book as a whole, the focus is on explaining the underlying pathogenetic mechanisms rather than providing a genetic guide for the uninitiated. However, in its focus on underlying genetic mechanisms, the book clearly succeeds. Many chapters, such as those on muscle and nerve genetics or metabolic disorders—including the porphyrias—are exemplary.