Diese einzige derzeit erhältliche Monographie zur tuberösen Sklerose (Bourneville-Pringle-Syndrom), einer nicht seltenen genetischen Erkrankung, befasst sich mit allen Fragen der molekulargenetischen Veränderungen (insbesondere im Hinblick auf die Signaltransduktion), der Diagnose und geeigneter Therapieansätze. Diskutiert wird aus dem Blickwinkel des Forschers, des Klinikers und auch des interessierten Patienten.

BASICS<br>The History of Tuberous Sclerosis Complex (Whittemore)<br>Natural History of Tuberous Sclerosis Complex and Overview of Manifestations <br>(Thiele and Jozwiak)<br>Diagnostic Criteria for Tuberous Sclerosis Complex (Roach and Sparagana)<br>GENETICS<br>Genetics of Tuberous Sclerosis Complex (Kwiatkowski)<br>Genotype-Phenotype Studies in TSC and Molecular Diagnostics (Au and Northrup)<br>BASIC SCIENCE<br>The Role of Target of Rapamycin Signaling in Tuberous Sclerosis Complex (Manning)<br>Rat and Mouse Models of tuberous Sclerosis (Kwiatkowski)<br>Animal Models of TSC: Insights from Drosophila (Pan)<br>BRAIN INVOLVEMENT<br>Pathogenesis of TSC in the Brain (Crino and Vinters)<br>Epilepsy in TSC (Thiele and Weiner)<br>Subependymal Giant Cell Astrocytomas (Franz, Krueger, Balko)<br>Neurodevelopmental, psychiatric and cognitive aspects of Tuberous Sclerosis Complex (de Vries)<br>OTHER ORGAN SYSTEMS<br>Ophthalmic Manifestations (Agrawal and Fulton)<br>Dermatologic Manifestations of TSC (Darling, Moss and Mausner)<br>Renal Manifestations of Tuberous Sclerosis Complex (Bissler and Henske)<br>Cardiac and Vascular Manifestations (Józwiak and Respondek-Liberska)<br>Lymphangioleiomyomatosis and pulmonary disease in TSC (McCormack and Henske)<br>Endocrine, Gastrointestinal, Hepatic and Lymphatic Manifestations of Tuberous Sclerosis Complex (O?Callaghan and Osborne)<br>FAMILY IMPACT<br>Impact on the Family and Genetic Counseling Issues (Whittemore and Lewis) <br> <br><br> <br><br> <br><br> <br><br> <br><br> <br><br>BASICS<br>The History of Tuberous Sclerosis Complex (Whittemore)<br> <br>Natural History of Tuberous Sclerosis Complex and Overview of Manifestations <br>(Thiele and Jozwiak)<br> <br>Diagnostic Criteria for Tuberous Sclerosis Complex (Roach and Sparagana)<br>GENETICS<br>Genetics of Tuberous Sclerosis Complex (Kwiatkowski)<br> <br>Genotype-Phenotype Studies in TSC and Molecular Diagnostics (Au and Northrup)<br>BASIC SCIENCE<br>The Role of Target of Rapamycin Signaling in Tuberous Sclerosis Complex (Manning)<br>Rat and Mouse Models of tuberous Sclerosis (Kwiatkowski)<br>Animal Models of TSC: Insights from Drosophila (Pan)<br>BRAIN INVOLVEMENT<br> <br>Pathogenesis of TSC in the Brain (Crino and Vinters)<br>Epilepsy in TSC (Thiele and Weiner)<br>Subependymal Giant Cell Astrocytomas (Franz, Krueger, Balko)<br> <br>Neurodevelopmental, psychiatric and cognitive aspects of Tuberous Sclerosis Complex (de Vries)<br> <br>OTHER ORGAN SYSTEMS<br> <br>Ophthalmic Manifestations (Agrawal and Fulton)<br> <br>Dermatologic Manifestations of TSC (Darling, Moss and Mausner)<br> <br>Renal Manifestations of Tuberous Sclerosis Complex (Bissler and Henske)<br>Cardiac and Vascular Manifestations (Józwiak and Respondek-Liberska)<br> <br>Lymphangioleiomyomatosis and pulmonary disease in TSC (McCormack and Henske)<br>Endocrine, Gastrointestinal, Hepatic and Lymphatic Manifestations of Tuberous Sclerosis Complex (O?Callaghan and Osborne)<br>FAMILY IMPACT<br>Impact on the Family and Genetic Counseling Issues (Whittemore and Lewis) <br> <br><br> <br><br> <br><br> <br><br> <br><br> <br><br>