Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

ISBN-13: 9783527322015 / Angielski / Twarda / 2010 / 432 str.

David J. Kwiatkowski; Vicky Holets Whittemore; Elizabeth Thiele

Opis

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.

Recenzje

"This is an amazing collection of all the latest information on this not uncommon neurocutaneous disorders ... All in all this is an amazing collection of current information on Tuberous Sclerosis and is relatively well priced for such an expensively illustrated text. It makes an excellent source for recent information and is of interest to most people in the world of Pediatric Neurology." (Canadian Journal of Neurological Sciences, 1 January 2012)

Spis treści

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 (Józwiak 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 (Józwiak 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)

O autorze

Dr. David Kwiatkowski is Professor of Medicine at Harvard Medical School, and Senior Physician at the Brigham and Women′s Hospital and Dana Farber Cancer Institute. He is the recipient of the Gomez Award for research contributions in tuberous sclerosis (TSC), and has authored over 180 original publications, of which nearly half are on various aspects of TSC. His current research interests include understanding the pathogenesis and genetics of TSC, development of mouse models of the disease, and exploration of potential therapies in preclinical models.

Dr. Vicky Holets Whittemore is the Vice President & Director of Science for the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US. She received her PhD from the University of Minnesota; post–doctoral training at the Karolinska Institute in neurobiology, and left academics when she was Associate Professor of Neurological Surgery at the University of Miami, Fla to run the National Tuberous Sclerosis Association in 1994. She is the mother of a child with TSC, and is highly knowledgeable about the disease, and a tireless advocate for TSC patients and families.

Dr. Elizabeth A. Thiele is a neurologist and epileptologist at Massachusetts General Hospital. She received her medical education at Johns Hopkins University School of Medicine, and post–graduate training at the Johns Hopkins Hospital and Children′s Hospital in Boston. She established and directs the Herscot Center for Tuberous Sclerosis Complex, and is Director of the Pediatric Epilepsy Service at Massachusetts General Hospital. She is an Associate Professor in Neurology at Harvard Medical School. Dr. Thiele′s research and clinical interests focus on multiple aspects of the clinical management of tuberous sclerosis, including epilepsy management, genotype–phenotype correlation in TSC, and neuropsychological aspects of TSC.