Neurogenetics

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, Alzheimers 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.

Spis treści:
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. Alzheimers disease and related dementias John Hardy
4. The epilepsies Mark Gardiner
5. The ataxias S. H. Subramony
6. Huntingtons 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.