Juvenile Huntington's Disease: and other trinucleotide repeat disorders

Juvenile Huntington's Disease: and other trinucleotide repeat disorders

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Oxford University Press, USA

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Juvenile Huntington's Disease: and other trinucleotide repeat disorders

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.

Product Details

ISBN-13: 9780199236121
Publisher: Oxford University Press, USA
Publication date: 03/28/2009
Pages: 200
Product dimensions: 6.20(w) x 9.30(h) x 0.70(d)

Table of Contents

Dedication v

Preface vii

Foreword ix

List of contributors xv

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

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

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

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

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

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

7 Juvenile Huntington's disease and mouse models of Huntington's disease Gillian P. Bates Ben Woodman 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 André R. Troiano Alexandra Düet;rr 117

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

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

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

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

Appendices: Proposed scales for juvenile Huntington's disease 189

1 JHD total functional capacity 189

2 JHD functional assessment 190

3 JHD motor assessment 191

Index 199

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