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Juvenile Huntington's Disease
and other trinucleotide repeat disorders
Edited by Oliver W.J. Quarrell, Helen M. Brewer, Ferdinando Squitieri, Roger A. Barker, Martha A. Nance, and G. Bernhard Landwehrmeyer
224 pages
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16 black and white line drawings and 10 photographs
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234x156mm
978-0-19-923612-1
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Hardback
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08 January 2009
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- 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
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.Readership: Paediatric neurologists, neurologists, geneticists, research scientists and those caring for young people with juvenile Huntington's Disease.
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Edited by Oliver W.J. Quarrell, Consultant in Clinical Genetics at Sheffield Children's Hospital, and Vice-Chair of the Huntington's Disease Association, UK, Helen M. Brewer, Care Adviser - Juvenile Huntington's Disease, Huntington's Disease Association, England and Wales, UK, Ferdinando Squitieri, Director of the Neurogenetics Unit, IRCCS Neuromed and Centre for Rare diseases, Pozzilli, Italy, Roger A. Barker, Reader in Clinical Neuroscience and Honorary Consultant Neurologist, University of Cambridge and Addenbrooke's Hospital, UK, Martha A. Nance, Medical Director of the HDSA Center of Excellence, Hennepin County Medical Center, Minneapolis, USA and Adjunct Professor in
the Department of Neurology at the University of Minnesota, USA, and G. Bernhard Landwehrmeyer, Professor of Neurology at the University of Ulm, Germany and Chief Executive of the European Huntington's Disease Network Contributors: Aimee Aubeeluck, School of Nursing, University of Nottingham, Derbyshire Royal Infirmary, Derby, UK Roger A. Barker, Cambridge Centre for Brain Repair and Department of Neurology, University of Cambridge and Addenbrookes Hospital, Cambridge, UK Gillian Bates, Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, UK Helen Brewer, Huntington's Disease Association,
London, UK Etty P. Cortes, The New York Brain Bank / Taub Institute, Columbia University, Children's Hospital, New York, USA Alexandra Dürr, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, Paris, France Roman Gonitel, Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, UK Christian E. Keller, The New York Brain Bank / Taub Institute, Columbia University, Children's Hospital, New York, USA Bernhard Landwehrmeyer, Universitätsklinik Ulm, Neurologie, Ulm, Germany Marie McGill, Scottish Huntington's Association, Elderslie, Scotland, UK Martha Nance, Huntington Disease Center of Excellence, Hennepin County Medical Center, Minneapolis, USA Oliver Quarrell, Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK Raymund A.C. Roos, Department of Neurology, LUMC, Leiden, the Netherlands Ferdinando Squitieri, Istituto di Ricovero e Cura a Carattere Scientifico, INM Neuromed and Centre for Rare Diseases, Pozzilli Italy André R. Troiano, Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, Paris, France Jean Paul G. Vonsattel, The New York Brain Bank / Taub Institute, Columbia University, Children's Hospital, New York, USA Ben Woodman, Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London UK
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1: Helen Brewer and Marie McGill: Family experiences: Part I diagnosis and early stages
2: Helen Brewer & Marie McGill: Family experiences: Part II later stages
3: Raymund A.C. Roos: The history of Juvenile Huntington's disease
4: Roger A. Barker and Ferdinando Squitieri: The clinical phenotype of JHD
5: Jean Paul G. Vonsattel, Etty P. Cortes and Christian E. Keller: Juvenile Huntington disease neuropathology
6: Roman Gonitel and Ferdinando Squitieri: Molecular mechanisms in Juvenile Huntington's disease
7: Gill Bates and Ben Woodman: Juvenile HD and Mouse models of Huntington's disease
8: André R. Troiano and Alexandra Dürr: Clinical features of early and juvenile onset in polyglutamine disorders other than HD: autosomal dominant cerebellar ataxias and dentatorubral pallidoluysian atrophy
9: Oliver Quarrell & Martha Nance: The diagnostic challenge
10: Martha Nance: Current therapeutic options
11: Helen Brewer and Aimee Aubeeluck: Psychosocial issues surrounding JHD
12: Helen Brewer, Roger Barker and Oliver Quarrell: 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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The specification in this catalogue, including without limitation price, format, extent, number of illustrations, and month of publication, was as accurate as possible at the time the catalogue was compiled. Occasionally, due to the nature of some contractual restrictions, we are unable to ship a specific product to a particular territory. Jacket images are provisional and liable to change before publication.
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