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Huntington's disease (HD) is an inherited progressive neurodegenerative disorder. Although onset of Huntington's Disease usually occurs in adulthood, the age of onset of the condition is extremely variable with approximately 5-10% of cases having an onset of less than 20 years, or Juvenile Huntington's Disease (JHD). While JHD shares many of the clinical features of adult HD (e.g., chorea and personality disorders), patients with JHD often experience additional problems including seizures, dystonia and Parkinsonism. Diagnosis in patients with JHD is often delayed because of the failure of clinicians to recognise the characteristic features of the condition. While several textbooks have been published on HD, no books have been published to date focussing solely on the juvenile onset form of the disease. This book summarises, for the first time, the clinical and scientific knowledge available on JHD. It also collects together accounts from families affected by the condition, putting the clinical and scientific chapters into context.
Edited by members of the working group on Juvenile Huntington's Disease within the European Huntington Disease Network (EHDN), this book forms the first comprehensive text on JHD and is of interest to neurologists, geneticists, academic/research scientists and other healthcare professionals.
Professor Bernhard Landwehrmeyer is Professor of Neurology at the University of Ulm, Germany. He trained as a doctor in Freiburg, Germany, qualifying in 1988, and became full Professor of Neurology at the University of Ulm in 2000. Since 2003 he has been the Chief Executive of the European Huntington's Disease Network (EHDN) and he has overseen the establishment of the network.
1. Family experiences: Part I diagnosis and early stages ; 2. Family experiences: Part II later stages ; 3. The history of Juvenile Huntington's disease ; 4. The clinical phenotype of JHD ; 5. Juvenile Huntington disease neuropathology ; 6. Molecular mechanisms in Juvenile Huntington's disease ; 7. Juvenile HD and Mouse models of Huntington's disease ; 8. Clinical features of early and juvenile onset in polyglutamine disorders other than HD: autosomal dominant cerebellar ataxias and dentatorubral pallidoluysian atrophy ; 9. The diagnostic challenge ; 10. Current therapeutic options ; 11. Psychosocial issues surrounding JHD ; 12. Challenges in assessment ; 13. Appendix 1 - JHD Total Functional Capacity ; 14. Appendix 2 - JHD Functional Assessment ; 15. Appendix 3 - JHD Motor Scale
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- ID: 9780199236121
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