Paolo Curatolo (ed.)

Tuberous sclerosis complex

from basic science to clinical phenotypes
Herausgeber: Curatolo, Paolo

• Gebundenes Buch

Produktbeschreibung

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 genetic data and basic science, covers clinical presentation, reviews the historical background and diagnostic criteria, and presents an overview of neuropathology, molecular genetics and neurobiology in order to give a better understanding of the pathogenesis of the disease. Paediatricians and child neurologists will find this book uniquely useful.

Produktdetails

• Verlag: Mac Keith Press
• Seitenzahl: 330
• Erscheinungstermin: 14. Dezember 2011
• Englisch
• Abmessung: 240mm x 161mm x 22mm
• Gewicht: 663g
• ISBN-13: 9781898683391
• ISBN-10: 1898683395
• Artikelnr.: 22243298

Autorenporträt

Edited by Paolo Curatolo, Università degli Studi di Roma 'Tor Vergata'

Inhaltsangabe

Index.

Foreword by H. Sarnat.

Preface

* * Historical background, Paolo Curatolo
* * Diagnostic criteria, Paolo Curatolo
* * Neurological manifestations, Paolo Curatolo and MagdaVerdecchia
* * Seizures, Paolo Curatolo and Stefano Seri
* * Intellectual and cognitive impairments, Patrick F.Bolton
* * Autism, Michael Dowling and Paolo Curatolo
* * Neuroimaging, Alessandro Bozzao, Guglielmo Manenti and PaoloCuratolo
* * Positron emission tomography, Eishi Asano, Diane C. Chuganiand Harry T. Chugani
* * Dermatologic and stomatologic manifestations, SergiuszJozwiak and Robert Schwartz
* * Ophthalmologic manifestations, Sergiusz Jozwiak
* * Renal involvement, Sergiusz Jozwiak
* * Cardiac and vascular involvement, Sergiusz Jozwiak
* * Hepatic, lung, splenic and pancreatic involvement, SergiuszJozwiak and Paolo Curatolo
* * Molecular genetics, David J. Kwiatkowski, Mary Pat Reeve,Jeremy P. Cheadle and Julian R. Sampson
* * Neuropathology, Masashi Mizuguchi and Okio Hino
* * Molecular neurobiology, Peter B. Crino
* * Future directions, Paolo Curatolo

Rezensionen

"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