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Home Juvenile Huntington's Disease

Juvenile Huntington's Disease

And Other Trinucleotide Repeat Disorders

Ferdinando Squitieri G. Bernhard Landwehrmeyer Helen M. Brewer Martha A. Nance Oliver W. J. Quarrell Roger A. Barker
Neuropediatrics, Neurology - general
Book
  • Juvenile Huntington's Disease - 9780199236121
€92.97
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Content
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. Focuses on the clinical features, diagnosis, assessment and therapy to assist clinicians working with families affected by JHD and HD Sections cover psychosocial, clinical and scientific aspects of the condition to create a complete reference guide in one volume CONTENTS 1. Family experiences: Part I diagnosis and early stages , Helen Brewer and Marie McGill 2. Family experiences: Part II later stages , Helen Brewer & Marie McGill 3. The history of Juvenile Huntington's disease , Raymund A.C. Roos 4. The clinical phenotype of JHD , Roger A. Barker and Ferdinando Squitieri 5. Juvenile Huntington disease neuropathology , Jean Paul G. Vonsattel, Etty P. Cortes and Christian E. Keller 6. Molecular mechanisms in Juvenile Huntington's disease , Roman Gonitel and Ferdinando Squitieri 7. Juvenile HD and Mouse models of Huntington's disease , Gill Bates and Ben Woodman 8. Clinical features of early and juvenile onset in polyglutamine disorders other than HD: autosomal dominant cerebellar ataxias and dentatorubral pallidoluysian atrophy , André R. Troiano and Alexandra Dürr 9. The diagnostic challenge , Oliver Quarrell & Martha Nance 10. Current therapeutic options , Martha Nance 11. Psychosocial issues surrounding JHD , Helen Brewer and Aimee Aubeeluck 12. Challenges in assessment , Helen Brewer, Roger Barker and Oliver Quarrell 13. Appendix 1 - JHD Total Functional Capacity 14. Appendix 2 - JHD Functional Assessment 15. Appendix 3 - JHD Motor Scale
Specifications
Publisher
Oxford University Press
Publication date
January 8, 2009
Pages
200
ISBN
9780199236121
Format
Hardback

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