Tuberous Sclerosis Complex

by Gomez, Manuel Rodriguez; Sampson, Julian R.; Whittemore, Vicky Holets

• ISBN13: 9780195122107
• ISBN10: 0195122100
• Edition: 3rd
• Format: Hardcover
• Copyright: 1999-07-15
• Publisher: Oxford University Press

Summary

Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central nervous system, seizures, and sometimes sever mental retardation. Infants with this disease may appear overactive, autistic, or socially impaired. Because tuberous sclerosis involves abnormal cellulardifferentiation, aberrant neuronal migration, and excessive cell proliferation, this thoroughly revised edition will be of interest to a wide range of professionals involved in the study of biological mechanisms underlying many genetically determined neurological disorders.

Table of Contents

Contributors	xix
History of Tuberous Sclerosis Complex	3	(7)
Manuel Rodriguez Gomez
Definition and Criteria for Diagnosis	10	(14)
Manuel Rodriguez Gomez
The Epidemiology of the Tuberous Sclerosis Complex	24	(5)
Charles W. Shepherd
Natural History of Cerebral Tuberous Sclerosis	29	(18)
Manuel Rodriguez Gomez
Psychiatric and Psychological Aspects	47	(16)
Ann Hunt
The Electroencephalogram in Tuberous Sclerosis	63	(12)
Barbara F. Westmoreland
Magnetoencephalography	75	(10)
Paolo Curatolo
Macro Peresson
Brain Imaging in the Tuberous Sclerosis Complex	85	(16)
Blake A. Carlson
O. Wayne Houser
Manuel Rodriguez Gomez
Neuropathology	101	(44)
Bernd W. Scheithauer
Thomas J. Reagan
Ophthalmic Findings	145	(15)
Dennis M. Robertson
Dermatologic Manifestations	160	(21)
Roy S. Rogers III
William J. O'Connor
Renal Manifestations	181	(13)
Johannes Bjornsson
Elizabeth Petri Henske
Jay Bernstein
Cardiac Manifestations	194	(13)
Douglas D. Mair
William D. Edwards
James B. Seward
Pulmonary Tuberous Sclerosis	207	(11)
J. T. Lie
The Endocrine System in Tuberous Sclerosis Complex	218	(10)
Donald Zimmerman
Liver, Digestive Tract, Spleen, Arteries, Thymus, and Lymphatics	228	(12)
Manuel Rodriguez Gomez
Imaging the Skeleton and the Great Vessels	240	(10)
Alan D. Hoffman
Lineages of Cells in the Central Nervous System	250	(13)
Kari Stefansson
Robert L. Wollmann
Peter R. Huttenlocher
The TSC1 Gene: Part 1--Gene Mapping	263	(25)
Hope Northrup
Kit-Sing Au
The TSCI Gene: Part 2--Identification, Mutations, and Mosaicism	275	(13)
David J. Kwiatkowski
The TSC2 Gene and Tuberin	288	(25)
Julian R. Sampson
Genetic Counseling	313	(11)
Virginia V. Michels
The Diagnosis of Tuberous Sclerosis Complex: The Impact on the Individual and Family	324	(7)
Vicky Holets Whittemore
Index	331