"Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field"--Provided by publisher. "Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field"--Résumé de l'éditeur Cover......Page 1 Half Title......Page 2 Title Page......Page 4 Copyright......Page 5 Contents......Page 6 Contributors......Page 7 Chapter 1: The human genome project - what it really means and where next......Page 9 Conclusions......Page 0 Chapter 2: Genetic counseling and genetic testing for neurogenetic disorders......Page 14 Chapter 3: Alzheimers disease and related dementias......Page 25 Chapter 4: The epilepsies......Page 40 Chapter 5: The ataxias......Page 60 Chapter 6: Huntingtons disease......Page 72 Chapter 7: Parkinsonism......Page 91 Chapter 8: Prion diseases......Page 111 Chapter 9: Channelopathies......Page 129 Chapter 10: Amyotrophic lateral sclerosis and other disorders of the lower motor neuron......Page 144 Chapter 11: The muscular dystrophies......Page 156 Chapter 12: Charcot-Marie-Tooth diseases......Page 174 Chapter 13: Mitochondrial disorders......Page 196 Chapter 14: The neurofibromatoses and related disorders......Page 220 Chapter 15: The future of neurogenetics......Page 237 Index......Page 242 Machine generated contents note: Preface; 1. The human genome project - what it really means and where next? / Sonia Gandhi and Nicholas Wood; 2. Genetic counselling and genetic testing for neurogenetic disorders / David Craufurd and Peter S. Harper; 3. Alzheimer's disease and related dementias / John Hardy; 4. The epilepsies / Mark Gardiner; 5. The ataxias / S. H. Subramony; 6. Huntington's disease / Sarah J. Tabrizi and Edward J. Wild; 7. Parkinsonism / Vincenzo Bonifati; 8. Prion diseases / Simon Mead and John Collinge; 9. Channelopathies / Michael G. Hanna and Dimitri M. Kullmann; 10. Amyotrophic lateral sclerosis and other disorders of the lower motor neuron / Christopher E. Shaw ... [et sl.]; 11. The muscular dystrophies / Kate Bushby and Una Sheerin; 12. Charcot-Marie-Tooth diseases / Odile Dubourg, Alexis Brice, and Eric LeGuern; 13. Mitochondrial disorders / Robert McFarland ... [et al.]; 14. The neurofibromatoses and related disorders / Rosalie E. Ferner; 15. The future of neurogenetics / Thomas D. Bird.
Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field.
