English | 2024 | PDF | 36 MB | 467 Pages
Gregory M. Pastores, 0323994172, 0323958591, 9780323958592, 978-0323958592, 9780323994170, 9780323994170, 978-0-323-99417-0, B0D2VJH6RN
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
