Tuberous Sclerosis Complex – From Basic Science to Clinical Phenotypes International Review of Child Neurology Series
From Basic Science to Clinical Phenotypes
Samenvatting
"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.
Specificaties
Inhoudsopgave
Foreword by H. Sarnat.
Preface
Historical background, Paolo Curatolo
Diagnostic criteria, Paolo Curatolo
Neurological manifestations, Paolo Curatolo and Magda Verdecchia
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 Paolo Curatolo
Positron emission tomography, Eishi Asano, Diane C. Chugani and Harry T. Chugani
Dermatologic and stomatologic manifestations, Sergiusz Jozwiak and Robert Schwartz
Ophthalmologic manifestations, Sergiusz Jozwiak
Renal involvement, Sergiusz Jozwiak
Cardiac and vascular involvement, Sergiusz Jozwiak
Hepatic, lung, splenic and pancreatic involvement, Sergiusz Jozwiak 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