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 Considerations
1. Introduction
2. Molecular genetic mechanisms of neurodevelopmental and neurodegenerative disease
3. Techniques for genetic diagnosis: a practical guide
4. Genetic counseling and related issues
5. A Complimentary Approach: Metabolomics
6. Psychiatric disorders
Section II. Early-onset Presentations
7. Infant with Hypotonia
8. Neurodevelopmental Disorders
9. Metabolomic decompensation in an infant or young child
10. Neurocutaneous defects
Section III. Later-onset presentations
11. Metabolic decompensation in an adult
12. Stroke
13. Dementia and cognitive decline
14. Muscle weakness (Dystrophies)
15. Episodic flaccid muscle weakness (periodic paralysis)
Section IV. Movement Disorders
16. Ataxia and Spasticity
17. Involuntary movements and postures (Dystonia)
Section V. Neuropathy and Sensory Problems
18. Sensorimotor problem (peripheral neuropathy)
19. Visual loss
20. Hearing loss
Section VI. Paroxysmal Disorders
21. Epilepsy
22. Migraine
Section VII. Organelle Pathologies
23. Neuronopathic Lysosomal storage disorders
24. Mitochondrial disorders: Nuclear-encoded gene defects
25. Mitochondrial DNA-encoded defects
Section VIII. Neuroimaging Findings as Clues
26. Brain malformations
27. Childhood-onset Leukodystrophy
28. Adult-onset Leukodystrophy
Section IX. Therapeutic Considerations
29. Pharmacogenetics
30. Therapeutic strategies based on genetic interventions
