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Leukodystrophies (ebook)

Product Type: PDF (Complete Book)

ISBN: 9781907655418

Gerald V. Raymond (Editor), Florian S. Eichler (Editor), Ali Fatemi (Editor), Sakkubai Naidu (Editor)

Series: International Reviews of Child Neurology Series

Publication date: March 2011

Page count: 252

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The leukodystrophies are serious, progressive disorders of demyelination, manifesting themselves in infancy or early childhood and progressing rapidly, leading to loss of sight, hearing, speech, and ambulation, and early death.

This book is a comprehensive guide to the genetics and pathogenesis of these disorders, as well as their clinical features, diagnosis and therapy, is needed, particularly as their early identification can allow more effective treatment. Its purpose is to summarize for the reader all aspects of the inherited disorders of myelin in children and adults.

After a comprehensive overview of myelin and the role of oligodendrocytes, astrocytes and microglia in white matter disease, chapters are then devoted to individual disorders, covering their biochemical and molecular basis, genetics, pathophysiology, clinical features, diagnosis, treatment and screening. The final chapters address therapeutic approaches in leukodystrophies and present a clinical approach to diagnosing leukoencephalopathies in children and adults. The book was conceived by Hugo Moser, whose research led to major developments in the treatment of adrenoleukodystrophy, and is dedicated to him by his colleagues.

  • Edited by world leaders in research on and treatment of leukodystrophy
  • A comprehensive approach to the genetic disorders of myelin in children and adults
  • Describes individual leukodystrophies in detail, including pathogenesis, genetics, clinical features, diagnosis and treatment.

Readership

Paediatric and adult neurologists, paediatricians, geneticists.

International Review of Child Neurology Series No. 12

Gerald V. Raymond (Editor)

Gerald V. Raymond

Gerald Raymond is a pediatric neurologist and research scientist at Kennedy Krieger Institute, Associate Professor of Neurology at Johns Hopkins University and on the medical staff in the Department of Pediatrics and Neurology at Johns Hopkins Hospital. He has been involved in the study of adrenoleukodystrophy and other peroxisomal disorders for over 15 years.

Florian S. Eichler (Editor)

Florian S. Eichler, MD

Florian Eichler is Director of the Leukodystrophy Service at Massachusetts General Hospital and Assistant Professor of Neurology at Harvard Medical School. His research focus is on the genetics of peroxisomal disorders, lipid metabolism, and spatial aspects of nuclear magnetic resonance spectroscopy.

Ali Fatemi (Editor)

S. Ali Fatemi , MD

Ali Fatemi is a pediatric neurologist in the Division of Neurology and Developmental Medicine and an investigator at the Hugo W. Moser Research Institute at Kennedy Krieger. He is also Assistant Professor of Neurology and Pediatrics at Johns Hopkins University. His research interest is in genetic and acquired conditions that affect the brainís white matter in newborns and infants.

Sakkubai Naidu (Editor)

SakkuBai Naidu , MD

Sakkubai Naidu is a research scientist at the Kennedy Krieger Institute and a Professor in the Departments of Neurology and Pediatrics at the Johns Hopkins University School of Medicine. She has a special interest in developmental and neurogenetic disorders affecting children and adults.

  • CONTRIBUTORS
  • PREFACE
  • 1. THE STRUCTURE OF THE HAND Robert E. Page
  • 2. THE HAND AS A PERCEPTUAL SYSTEM Roberta L. Klatzky
  • 3. THE CONTROL OF HUMAN PREHENSION Patrick Haggard
  • 4. MANUAL DEXTERITY Lynette Jones
  • 5. THE STABILITY OF HANDEDNESS Marian Annett
  • 6. HOW NON-HUMAN PRIMATES USE THEIR HANDS Dorothy Fragaszy
  • 7. THE NEUROPHYSIOLOGY OF MANUAL SKILL DEVELOPMENT Hans Forssberg
  • 8. CHANGES IN GRASPING SKILLS AND THE EMERGENCE OF BIMANULA COORDINATION DURING THE FIRST YEAR OF LIFE Jacqueline Fagard
  • 9. EXPLORING AND EXPLOITING OBJECTS WITH THE HANDS DURING INFANCY Emily W. Bushnell and J. Paul Boudreau
  • 10. BODY SCALE AND THE DEVELOPMENT OF HAND FORM AND FUNCTION IN PREHENSION Karl M. Newell and Paola Cesari
  • 11. THE DEVELOPMENT OF MANUAL DEXERITY IN YOUNG CHILDREN Edison de J. Manoel and Kevin J. Connolly
  • 12. DEVOPMENTAL DISORDERS AND THE USE OF GRIP FORCE TO COMPENSATE FOR INERTIAL FORCES DURING VOLUNTARY MOVEMENT Elisabeth L. Hill and Alan M. Wing
  • 13. ASSESSING MANUAL CONTROL IN CHILDREN WITH COORDINATION DIFFICULTIES John P. Wann, Mark Mon-Williams and Richard G. Carson
  • 14. MANUAL SKILLS IN CHILDREN WITH LEARNING DIFFICULTIES David Sugden
  • 15. NEUROLOGICAL DISORDERS AND ABNORMAL HAND FUNCTION Mary O’Regan and J. Keith Brown
  • INDEX

'Like all of the volumes from the Mac Keith Press, this one features hard covers, sturdy binding, and an attractive layout. Numerous high-quality magnetic resonance images, excellent diagrams, and useful tables are included. A final 4 pages contain striking fullcolor images on glossy paper. The index is detailed, and the references are up to date. This volume is essential for physicians who treat children with metabolic diseases. It is also useful for child neurologists, and is a valuable resource for trainees studying for certification.' Robert J. Baumann, Pediatric Neurology, 2011

'It will be very useful as both an introduction and a reference source to various health professionals interested in disorders of white matter.' Raphael Schiffmann, The Lancet Neurology, 2011

'This is a great book for those interested in metabolic disorders of the brain and myelination. The clinical disorders and therapeutic approaches are detailed appropriately for clinicians and scientists. In addition, the research is current and stimulates more questions to be answered.' Amaal Starling, MD, Mayo Clinic Arizona