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.
• Clinical application of neurogenetics - neurological diseases are cross-referenced to clinical implications • Selected illustrations are used to supplement and enhance the text • Written by international leaders in the field, giving an authoritative and informed perspective
Contents
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, Jameen Sreedharan, Caroline A. Vance and Ammar Al-Chalabi; 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, Robert Taylor, Andrew Schaefer and Doug Turnbull; 14. The neurofibromatoses and related disorders Rosalie E. Ferner; 15. The future of neurogenetics Thomas D. Bird; Index.
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