Genetics and Genomics of Neurobehavioral Disorders

Description

In recent years, significant gains have been made in the cloning and identification of numerous genes that produce neurobehavioral disorders, as well as in the ability of neuropsychological tests to accurately assess and evaluate cognitive deficits and behavioral dysfunction. In Genetics and Genomics of Neurobehavioral Disorders, a panel of leading researchers draws on this new knowledge to provide a clear and comprehensive account of how genetic abnormalities, neurobiology, and neuropsychology work together to manifest cognitive-behavioral dysfunction. The authors review the current status of research in autosomal disorders that produce such dysfunctions, examining both microdeletion disorders (Prader-Willi syndrome/Angelman syndrome, deletion 22q11, and Williams syndrome) and syndromes arising from microdeletions and sequence variants, among them neurofibromatosis (NF1 and NF2), tuberous sclerosis (TSC1 and TSC2), and myotonic dystrophy. X-linked disorders producing mental retardation in syndromal disorders (ATRX, Rett, and fragile X) and nonsyndromal disorders (FRAXE and MRX) are also discussed. An insightful introduction surveys the history of neurobehavioral disorders, the establishment of relationships between genetic and cognitive impairment, the relationship between neurobiology and behavior, recent advances in neurogenomics, and the use of animal models for complex human disorders and cognitive impairment. Comprehensive and up-to-date, Genetics and Genomics of Neurobehavioral Disorders integrates the molecular, genomic, neuropsychological, and neurobehavioral factors that produce learning disabilities and mental retardation into a coherent framework for the understanding and assessment of neurobehavioral disorders. Front Matter....Pages i-x Front Matter....Pages 1-1 The Genetics and Genomics of Neurobehavioral Disorders....Pages 3-19 Neuroanatomical Considerations Specific to the Study of Neurogenetics....Pages 21-37 Modeling Cognitive Disorders....Pages 39-68 What Can the Study of Behavioral Phenotypes Teach Us About the Pathway from Genes to Behavior?....Pages 69-93 Front Matter....Pages 95-95 The Central Nervous System in Neurofibromatosis Type 1....Pages 97-131 Prader-Willi and Angelman Syndromes....Pages 133-158 Tuberous Sclerosis....Pages 159-194 Behavioral Phenotype in Velo-Cardio-Facial Syndrome....Pages 195-208 Williams-Beuren Syndrome....Pages 209-236 Behavioral Phenotype in Myotonic Dystrophy (Steinert’s Disease)....Pages 237-260 Front Matter....Pages 261-261 Genetics of X-Linked Mental Retardation....Pages 263-287 Nonsyndromal Mental Retardation Associated with the FRAXE Fragile Site and the FMR2 Gene....Pages 289-305 Front Matter....Pages 307-307 ATR-X Syndrome....Pages 309-334 The Fragile X Syndrome and the Fragile X Mutation....Pages 335-389 Rett Syndrome....Pages 391-418 Back Matter....Pages 419-428