Beschreibung:
Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine each major genetic neurologic disorder.
1. Introductioin to Medical Genetics; 2. Molecular Techniques; 3. Strategies Towards Cloning Of Disease Genes; 4. Familial Alzheimer Disease; 5. ALS; 6. Hereditary Motor Sensory Neuropathies; 7. Duchenne Muscular Dystrophy; 8. FSH and DM; 9. Huntington Disease; 10. Dominant Atazias; 11. Neurofibromatoses; 12. Mitochondrial Diseases; 13. Prion Diseases; 14. Wilson's and Menke's Disease; 15. Metachromatoic Leukodystrophy; 16. Neuronal Ceroid Lipofuscinoses; 17. Gene Dosage and Disease: Trisomy 21; 18. Holoprosencephaly; 19. Parkinson's; 20. Epilepsy; 21. Migraine; 22. Stroke; 23. Chromosomal Map of Neurologic Diseases