The Molecular and genetic basis of neurological disease

著者

書誌事項

The Molecular and genetic basis of neurological disease

edited by Roger N. Rosenberg ... [et al.] ; with 108 contributing authors

Butterworth-Heinemann, c1997

2nd ed.

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注記

Includes bibliographical references and index

内容説明・目次

内容説明

Determination of the molecular pathogenesis of genetic neurological disease is indispensable to the development of pharmacologic or gene therapy for these disorders. Therapy for patients is the ultimate goal, and as described in the text such progress is just beginning in several areas such as glycogen storage disease, lipoprotein disorders, lysosomal disorders, Duchenne muscular dystrophy, genetic forms of epilepsy and membrane excitability disorders among others.

目次

  • Contents: 1. Molecular Genetics and Neurologic Disease: An Introduction
  • 2. A Neurologic Gene Map
  • 3. Finding and Excluding Gene Locations by Linkage Analysis
  • 4. Gene Targeting
  • 5. Down Syndrome
  • 6. Fragile X Syndrome
  • 7. Molecular Biology of Prion Diseases
  • 8. Clinical and Neuropathologic Features of Prion Diseases
  • 9. Inherited Prion Diseases
  • 10. The Mitochondrial Genome
  • 11. Mitochondrial Encephalomyelopathies
  • 12. Mitochondrial Mechanisms of Aging
  • 13. Peroxisomal Disorders
  • 14. Refsum Disease
  • 15. The Mucopolysaccharidoses and the Mucolipidoses
  • 16. Disorders of Glycoprotein Degradation
  • 17. Wolman Disease
  • 18. Ceramidase Deficiency: Farber Lipogranulomatoses
  • 19. The Niemann-Pick Disease Group
  • 20. Glucosyceramide Lipidosis: Gaucher Disease
  • 21. Krabbe Disease (Globoid Cell Leukodystrophy)
  • 22. Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency
  • 23. Fabry Disease: Alpha-Galactosidase A Deficiency
  • 24. Schindler Disease: Deficient Alpha-N-Acetylgalactosamindase Activity
  • 25. Beta-Galactosidase Deficiency: GM1 Gangliosidosis, Morquio B Disease, and Galactosialidosis
  • 26. The GM2 Gangliosidoses
  • 27. Canavan Disease
  • 28. The Hereditary Ataxias
  • 29. Huntington Disease
  • 30. Inherited Disorders of the Basal Ganglia
  • 31. Alzheimer Disease: Clinical and Genetic Features
  • 32. Cellular and Molecular Biology of Amyloid and Alzheimer Disease
  • 33. Cellular and Molecular Biological Aspects of Tau and Alzheimer Disease
  • 34. Inherited Multiple Sclerosis
  • 35. Oncogenes and Neuro-Oncology
  • 36. Tumors of Neuronal Cell Origin
  • 37. Tumor Suppressor Genes and the Nervous System
  • 38. The Clinical and Molecular Genetics of Neurofibromitosis I and II
  • 39. Myotonia Congenita
  • 40. The Periodic Paralyses
  • 41. Malignant Hyperthermia and Central Core Disease
  • 42. Episodic Ataxia and Myokymia
  • 43. Genetic Epilepsies
  • 44. Spinal Muscular Atrophy
  • 45. Inherited ALS
  • 46. Inherited Demyelinating Neuropathy
  • 47. Inherited Axonal Neuropathy
  • 48. Familial Amyloidotic Neuropathy
  • 49. Congenital Myopathies
  • 50. Dystrophinopathi

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