Neurogenetics for the Practitioner - Softcover

Softcover

ISBN 10: 0323994172 ISBN 13: 9780323994170

Publisher: Academic Press, 2024

Synopsis

Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. Sections introduce the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features, including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. This internationally contributed book will become the essential reference guide for neurologists.

• Reviews genetic testing for diagnostic confirmation, including carrier testing and prenatal diagnosis
• Explores various therapeutic strategies based on genetic interventions
• Discusses when a neurologic problem may have an underlying genetic cause

About this title

About the Author

Clinical geneticist with expertise in inborn errors of metabolism, in particular Lysosomal storage disorder. Had directed a clinical and diagnostic/research laboratory in Neurogenetics for the Dept of Neurology at NYU, and for several years directed a course under the heading of the proposed book

From the Back Cover

Neurogenetics is a growing field, providing a clear link between clinical characteristics of phenotypes and exact molecular tests to reach a specific diagnosis. Neurogenetics for the Practitioner provides clinicians with a navigation tool to help diagnose and treat patients with neurological disorders using neurogenetics. The first section introduces the reader to an overview of genetic principles, including practical applications in relation to diagnosis and current limitations. Additional chapters highlight how to workup patients presenting with certain features including cerebral palsy/intellectual disability, congenital muscular dystrophy, cognitive decline/dementia, peripheral neuropathy, and paroxysmal disorder. The final section explores therapeutic strategies based on genetic interventions and genetic counselling options. Internationally contributed, this book will become the essential reference guide for neurologist.

Edition details

• Publisher: Academic Press
• Publication date: 2024
• Language: English
• ISBN 10: 0323994172
• ISBN 13: 9780323994170
• Binding: Paperback
• Number of pages: 510
• Editor: Pastores