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This book is well known to many neurologists and represents the foremost book for this area of neurological practice. The latest edition is dedicated to the life and accomplishments of the late professor Anita Harding and serves as a very fitting tribute to this remarkable neurologist.
The book is divided into 23 sections and contains nearly 1500 pages of text in the form of 77 chapters. It is therefore impossible to do justice to a book of this nature in a short book review, but for detail and clarity, there are few books to compete with this tome. The book opens with an account of some of the more general issues in genetics which is especially helpful for the non-specialist as it helps explain the approach in tackling neurological disorders from a genetic point of view. Indeed, this is ultimately the problem with a book of this type, in that the field moves forward with such speed that chapters soon become out of date. For example, the chapter on Huntington’s disease does not discuss recent animal models of this disease using expanded CAG repeats and the significance of intranuclear inclusion bodies.
Furthermore, whereas the expanded triplet repeat in Friedreich’s ataxia is well discussed, no details are presented on the role of frataxin. These, however, are minor points in what is clearly an excellent reference book. Each condition is concisely documented with good illustrations and up to date reference lists, and thus readers can easily remind themselves about various conditions. There are occasional omissions—for example Pelizeus-Merzbacher disease does not appear in this book even though the genetics of this conditions are now becoming clearer.
This book is a must for all libraries but from an individual point of view it may seem extravagant to own a copy especially in a field that moves so fast. Specialists in neurological genetics would probably want to own a copy and update it manually as new information emerges. For the more general neurologist, a large neurological textbook probably offers a better buy as it covers all the conditions in this book and more. However, I loved this book and enjoyed dipping into it to catch up on the latest developments in the ever increasing array of neurogenetic disorders. Although many of these disorders are still rare, it seems that more and more neurological conditions will be found to have a genetic basis, and so an understanding of genetics, especially at the molecular level, will be an essential part of any neurologist’s training. So why not start now with this book?