A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level. As we obtain a fuller, more complex picture of the genes giving rise to neurological disease, a coherent volume for neurologists is essential. This book provides an up-to-date overview of current knowledge and discusses the major and substantial points relevant to various neurological diseases. As we obtain a fuller, more complex picture of the genes giving rise to neurological disease, a coherent volume for neurologists is essential. This book provides an up-to-date overview of current knowledge and discusses the major and substantial points relevant to various neurological diseases. 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 synopticoverview for neurologists, medical geneticists and scientists working in the field. INDICE: Preface; 1. The human genome project – what it really means and where next? Sonia Gandhi and Nicholas Wood; 2. Genetic counselling and genetictesting 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. Tabriziand 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 AmmarAl-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.
- ISBN: 978-0-521-54372-9
- Editorial: Cambridge University
- Encuadernacion: Rústica
- Páginas: 250
- Fecha Publicación: 12/04/2012
- Nº Volúmenes: 1
- Idioma: Inglés