Juvenile Huntington's Disease: and other trinucleotide repeat disorders

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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 recognize the characteristic features of the condition. While several textbooks have been published on HD, no books have been published to date focusing solely on the juvenile onset form of the disease. This book summarizes, 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 party European Huntington's Disease Network (EDHN), this book forms the first comprehensive text on JHD and is of interest to neurologists, geneticists, academic/research scientists, and other healthcare professionals.

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Product Details

  • ISBN-13: 9780199236121
  • Publisher: Oxford University Press, USA
  • Publication date: 3/28/2009
  • Pages: 200
  • Product dimensions: 6.20 (w) x 9.30 (h) x 0.70 (d)

Meet the Author

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 Association in the UK, and from there has had the opportunity to expand the JHD project. He is the lead facilitator of the JHD working group of the European Huntington's Disease Network (EHDN).
Helen Brewer works as the Care Adviser for JHD with the Huntington's Disease Association in England and Wales (HDA), offering advice and support to families affected by JHD and professionals involved in their care. She is currently coordinating the work of the JHD working group of EHDN.
Professor Ferdinando Squitieri is a Neurologist with PhD in neurobiology, and with expertise in molecular genetics and psychiatry. He has led the Neurogenetics Unit at Neurological Institute Neuromed in Pozzilli (Italy), since 1998. He has expertise in HD, having published many manuscripts on clinical and genetic aspects of this pathology. He coordinates the predictive testing program at Neuromed and is a scientific coordinator of the Family HD Association AICH-Neuromed in Italy. Dr Roger A. Barker is a Reader in Clinical Neuroscience and Honorary Consultant in Neurology at Addenbrooke's Hospital, Cambridge (UK). His main interests are in the neurodegenerative disorders of the nervous system, in particular Parkinson's disease and Huntington's disease. He combines basic research looking at cell therapies to treat these conditions with clinically based work on defining the natural history and heterogeneity of both Huntington's disease and Parkinson's disease. He is a member of the PDS Research Advisory Panel, the MRC Stem cell Liaison Committee and is co-editor in chief of the journal Advances in Clinical Neuroscience and Rehabilitation.

Dr. Martha A. Nance is Adjunct Associate Professor in the Department of Neurology at the University of Minnesota (USA). She received her B.S. from Yale University, her MD from Medical College of Virginia, and completed her neurology and genetics training at the University of Minnesota, where she is now an Adjunct Professor. She has been the Medical Director of the Hennepin County (Minnesota) Medical Center HD Center of Excellence since 1991 and is a member of the Huntington Study Group. She is the author of The Physician's Guide to HD and The Juvenile HD Handbook, both published by the Huntington Disease Society of America.
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.

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Table of Contents

1 Family experiences: Part I, Diagnosis and early stages Helen M. Brewer Brewer, Helen M. Marie McGill McGill, Marie 1

2 Family experiences: Part II, Later stages Helen M. Brewer Brewer, Helen M. Marie McGill McGill, Marie 19

3 The history of juvenile Huntington's disease Raymund A. C. Roos Roos, Raymund A. C. 33

4 The clinical phenotype of juvenile Huntington's disease Roger A. Barker Barker, Roger A. Ferdinando Squitieri Squitieri, Ferdinando 39

5 Juvenile Huntington's disease: neuropathology Jean Paul G. Vonsattel Vonsattel, Jean Paul G. Etty P. Cortes Cortes, Etty P. Christian E. Keller Keller, Christian E. 51

6 Molecular mechanisms in juvenile Huntington's disease Roman Gonitel Gonitel, Roman Ferdinando Squitieri Squitieri, Ferdinando 79

7 Juvenile Huntington's disease and mouse models of Huntington's disease Gillian P. Bates Bates, Gillian P. Ben Woodman Woodman, Ben 101

8 Clinical features of early and juvenile onset in polyglutamine disorders other than Huntington's disease: autosomal dominant cerebellar ataxias and dentatorubral pallidoluysian atrophy Andre R. Troiano Troiano, Andre R. Alexandra Durr Durr, Alexandra 117

9 The diagnostic challenge Oliver W. J. Quarrell Quarrell, Oliver W. J. Martha A. Nance Nance, Martha A. 135

10 The treatment of juvenile Huntington's disease Martha A. Nance Nance, Martha A. 151

11 Psychosocial issues surrounding juvenile Huntington's disease Helen M. Brewer Brewer, Helen M. Aimee Aubeeluck Aubeeluck, Aimee 167

12 Challenges in assessment Helen M. Brewer Brewer, Helen M. Roger A. Barker Barker, Roger A. Oliver W. J. Quarrell Quarrell, Oliver W. J. 181

Appendices Proposed scales for juvenile Huntington'sdisease 189

1 JHD total functional capacity 189

2 JHD functional assessment 190

3 JHD motor assessment 191

Index 199

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