Neurogenetics for the Practitioner

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

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