Kishore R. Kumar, Carolyn M. Sue, Alexander Münchau, and Christine Klein

Print publication date: Sep 2014

ISBN: 9780199383894

Publisher: Oxford University Press


This online resource provides clinicians with a framework for dealing with neurogenetic conditions using real case studies to illustrate the most important and topical neurogenetic disorders. It covers a wide range of inherited conditions, including forms of dystonia, Parkinson’s disease, spastic paraplegias, mitochondrial diseases, myopathies, neuropathies, and much more. Particular attention is paid to practical issues regarding how to make a genetic diagnosis and how to counsel the family. We will also address some contemporary issues in neurogenetics, such as the impact of direct-to-consumer genetic testing. Each chapter focuses on crucial issues regarding the clinical assessment, investigations and management of conditions, and key clinical points are listed at the end of the chapter, along with a list of suggested further reading.