Main description:

The only comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis, which affects approximately 50,000 people in the US alone. Special focus is placed on novel insights into the signal transduction pathways affected by the disease as well as genotype phenotype correlations, while existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease as well as the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US.

Contents:

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