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Tuberous Sclerosis Complex : From Basic Science to Clinical Phenotypes

Tuberous Sclerosis Complex : From Basic Science to Clinical Phenotypes

Paolo Curatolo (Editor)

ISBN: 978-1-898-68339-1

Jan 2003

328 pages

Select type: Hardcover

Out of stock

$107.95

Description

""This is clearly the most authoritative and contemporary statement of current knowledge yet published.""
from the Foreword by H. Sarnat

Tuberous sclerosis is the prototype of a category of malformations uniquely characterized by disturbances in cellular differentiation and growth. It presents with a complex association of different neurological phenotypes, including seizures, cognitive impairments and autism. It is important not only because it is a relatively common hereditary neurological disease with high morbidity, but because it has implications in other pathological processes, such as dysplasia and neoplasia, hamartoma formation and other disturbances in morphogenic processes.

This book correlates new genetic data and basic science, covers clinical presentation, reviews the historical background and current diagnostic criteria, and deals with the recent advances in neuropathology, molecular genetics and neurobiology which give a better understanding of the pathogenesis of the disease.

Paediatricians and child neurologists will find this book uniquely useful.

Index.

Foreword by H. Sarnat.

Preface


  1. Historical background, Paolo Curatolo

  2. Diagnostic criteria, Paolo Curatolo

  3. Neurological manifestations, Paolo Curatolo and Magda Verdecchia

  4. Seizures, Paolo Curatolo and Stefano Seri

  5. Intellectual and cognitive impairments, Patrick F. Bolton

  6. Autism, Michael Dowling and Paolo Curatolo

  7. Neuroimaging, Alessandro Bozzao, Guglielmo Manenti and Paolo Curatolo

  8. Positron emission tomography, Eishi Asano, Diane C. Chugani and Harry T. Chugani

  9. Dermatologic and stomatologic manifestations, Sergiusz Jozwiak and Robert Schwartz

  10. Ophthalmologic manifestations, Sergiusz Jozwiak

  11. Renal involvement, Sergiusz Jozwiak

  12. Cardiac and vascular involvement, Sergiusz Jozwiak

  13. Hepatic, lung, splenic and pancreatic involvement, Sergiusz Jozwiak and Paolo Curatolo

  14. Molecular genetics, David J. Kwiatkowski, Mary Pat Reeve, Jeremy P. Cheadle and Julian R. Sampson

  15. Neuropathology, Masashi Mizuguchi and Okio Hino

  16. Molecular neurobiology, Peter B. Crino

  17. Future directions, Paolo Curatolo
""The previous giant of tuberous sclerosis was Manuel Gomez of the Mayo Clinic. The present giant is surely Paolo Curatolo. Others will surely stand on his shoulders, some of whom may have their enthusiasm first lit by reading this book. Pediatric neurologists, make sure you have it."" Journal of Pediatric Neurology
""This is clearly the most authoritative and contemporary statement of current knowledge yet published."" from the Foreword by H. Sarnat

  • Comprehensive overview incorporating the most up-to-date science

  • Enables better recognition, understanding and diagnosis of a complex multisystem disorder

  • Covers clinical management, future and current research, and most recent findings from genetics and related fields