Description
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.- 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
Table of Contents
Section I. General Considerations1. Introduction2. Molecular genetic mechanisms of neurodevelopmental and neurodegenerative disease3. Techniques for genetic diagnosis: a practical guide4. Genetic counseling and related issues5. A Complimentary Approach: Metabolomics6. Psychiatric disordersSection II. Early-onset Presentations7. Infant with Hypotonia8. Neurodevelopmental Disorders9. Metabolomic decompensation in an infant or young child10. Neurocutaneous defectsSection III. Later-onset presentations11. Metabolic decompensation in an adult12. Stroke13. Dementia and cognitive decline14. Muscle weakness (Dystrophies)15. Episodic flaccid muscle weakness (periodic paralysis)Section IV. Movement Disorders16. Ataxia and Spasticity17. Involuntary movements and postures (Dystonia)Section V. Neuropathy and Sensory Problems18. Sensorimotor problem (peripheral neuropathy)19. Visual loss20. Hearing lossSection VI. Paroxysmal Disorders21. Epilepsy22. MigraineSection VII. Organelle Pathologies23. Neuronopathic Lysosomal storage disorders24. Mitochondrial disorders: Nuclear-encoded gene defects25. Mitochondrial DNA-encoded defectsSection VIII. Neuroimaging Findings as Clues26. Brain malformations27. Childhood-onset Leukodystrophy28. Adult-onset LeukodystrophySection IX. Therapeutic Considerations29. Pharmacogenetics30. Therapeutic strategies based on genetic interventions
