Juvenile Huntingtons Disease: and other trinucleotide repeat disorders

Hardcover | February 8, 2009

EditorOliver W.J. Quarrell, Helen M. Brewer, Ferdinando Squitieri

not yet rated|write a review
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 JuvenileHuntington'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 thefailure 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 scientificknowledge 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 party European Huntington's 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.

Pricing and Purchase Info

$110.00

Ships within 1-3 weeks
Ships free on orders over $25

From the Publisher

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 JuvenileHuntington's Disease (JHD). While JHD shares m...

Dr Oliver Quarrell is a Consultant Clinical Geneticist at Sheffield Children's Hospital. He started work on his MD in HD just after the gene was localised to chromosome 4. He has worked on aspects of HD ever since and is author of Huntington's Disease: The Facts. He remains actively involved with the Huntington's Disease Associatio...

other books by Oliver W.J. Quarrell

Huntingtons Disease
Huntingtons Disease

Paperback|Mar 15 2008

$27.54 online$29.95list price(save 8%)
Format:HardcoverDimensions:200 pages, 9.21 × 6.14 × 0.03 inPublished:February 8, 2009Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0199236127

ISBN - 13:9780199236121

Look for similar items by category:

Customer Reviews of Juvenile Huntingtons Disease: and other trinucleotide repeat disorders

Reviews

Extra Content

Table of Contents

1. Helen Brewer and Marie McGill: Family experiences: Part I diagnosis and early stages2. Helen Brewer and Marie McGill: Family experiences: Part II later stages3. Raymund A.C. Roos: The history of Juvenile Huntington's disease4. Roger A. Barker and Ferdinando Squitieri: The clinical phenotype of JHD5. Jean Paul G. Vonsattel, Etty P. Cortes and Christian E. Keller: Juvenile Huntington disease neuropathology6. Roman Gonitel and Ferdinando Squitieri: Molecular mechanisms in Juvenile Huntington's disease7. Gill Bates and Ben Woodman: Juvenile HD and Mouse models of Huntington's disease8. Andre R. Troiano and Alexandra Durr: Clinical features of early and juvenile onset in polyglutamine disorders other than HD: autosomal dominant cerebellar ataxias and dentatorubral pallidoluysian atrophy9. Oliver Quarrell and Martha Nance: The diagnostic challenge10. Martha Nance: Current therapeutic options11. Helen Brewer and Aimee Aubeeluck: Psychosocial issues surrounding JHD12. Helen Brewer, Roger Barker and Oliver Quarrell: Challenges in assessment13. Appendix 1 - JHD Total Functional Capacity14. Appendix 2 - JHD Functional Assessment15. Appendix 3 - JHD Motor Scale