Kishore R KumarCarolyn M SueAlexander MünchauChristine Klein

‘What do I do now?’ series

Edited by: Published by: Oxford University Press ISBN: 978-0-19-938389-4 Retail Price: £22.99; $35.00

This handy volume of 31 brief chapters covers much of what the neurologist would need to know about genetics in current practice, in a compact and easy to read format. The topics are each based around a clinical scenario, resulting in an easily accessible style that will be particularly familiar to graduates of problem-based learning medical curricula. The text is clearly written and to-the-point, with each chapter containing a helpful ‘key points to remember’ box in conclusion.

In keeping with the series title, there is an emphasis on practical aspects of investigation and management. This means that each short chapter can provide the clinician with a useful working knowledge of a condition, or a group of conditions, and their genetic basis. The appropriate application of genetic testing is discussed, and issues such as direct-to-consumer testing and coincidental findings are addressed specifically in chapters at the end of the book.

The layout of the book favours conciseness, meaning that there are not many diagrams or illustrations, and those that are included are small and greyscale, which is a disadvantage for the histological and clinical photographs. Similarly, the resolution of some of the brain imaging presented is less than ideal, but is sufficient to identify the key features.

The choice of topics is wide ranging but, of necessity in a book this size, not completely comprehensive. The case-based format makes it easy to engage with the description of an individual disorder, but can be less successful when covering a group of very closely related conditions such as the spinocerebellar ataxias (there are two chapters, covering SCA2 and SCA17, with, of necessity, a degree of overlap between them, for example). The narrative style, with references to the individual case details, such as the mutation identified, throughout the text, means that each chapter may be less useful as a quick source of reference, and more useful as a holistic introduction to the condition, warranting reading as a whole.

This book would be valuable reading for the neurologist in training or in practice, and could also make a worthwhile addition to the library of anyone sitting membership of the Royal College of Physicians, for example, as well as higher specialist exams in neurology. The genetic information is clearly presented and up to date, but the background to this is not described in as much detail as could be ideal for clinical geneticists in training and specialist neurogenetic practice. Overall, this book does a great job of demystifying neurogenetic conditions, and equipping the physician with enough knowledge to start to investigate and manage them.