European Journal of Paediatric Neurology (2004) 8, 63
BOOK REVIEW Genetics and Genomics of Neurobehavioral Disorders Gene S Fisch (Ed.); Humana Press, Totowa, USA, 2003, 428 pages, hardback, ISBN:1-58829-045-X (US$ 125.00) This book is a valuable contribution to the study of those clinical syndromes in which prominent and specific cognitive, psychological and/or psychiatric abnormalities have been associated to specific genetic defects, either in the form of gross microdeletions of our genetic material, or abnormalities in the function of specific genes. Its first section deals with general concepts about the topic, while the remaining three offer comprehensive descriptions of specific syndromes, including Neurofibromatosis Type 1, the Tuberous Sclerosis Complex, Myotonic Dystrophy and Non-syndromal X-linked Mental Retardation, together with the Prader-Willi, Angelman, Williams-Beuren, Velo-Cardio-Facial, Fragile-X, FMR2, Alpha-Thalassemia-Mental Retardation, and Rett syndromes. A global description of how studying these entities may offer additional lights into understanding normal human behavior is successfully attempted. In particular, the issues of some animal models and specific neuroanatomical considerations to a few of them are discussed. Of marked interest is the topic of how pathways from gene products to specific behavioral phenotypes are slowly being constructed. Unfortunately, one of its chapters dwells excessively into historical details that may not be relevant to the discussion, while others describe repetitive data, especially in regard to those animal models. Nevertheless, the reader is granted with a nice overview of the issues at hand, including the practical difficulties encountered by researchers dealing with these fascinating conditions. Most descriptions of the actual disorders are complete and well up to date, although a few are not uniform. In fact, some devote excessive room to their systemic features, while others simply fall into the sequential
enumeration of available data. A proper emphasis on their biomolecular and/or genomics aspects is also offered, although, again, this is not uniform (for instance, the eagerly expected chapter on the molecular biology of the imprinting process is almost absent). Most of the references are adequately and properly updated, although at times, a few chapters are not easy to read due to heavy technological terminology. Overall, the book has a limited number of relevant diagrams and pictures. Nevertheless, I believe that its proposed goal (i.e. ‘to provide the reader with a clear and comprehensive account of how genetic abnormalities, neurobiology, and neuropsychology work in concert to manifest cognitive-behavioral dysfunction’) is achieved. The chapters on Williams-Beuren syndrome, Non-syndromal Xlinked Mental Retardation, Alpha-Thalassemia-MR and Fragile X are outstanding, and represent an important contribution to the understanding of these disorders. An additional note: more common conditions such as Attention Deficit Disorder and Mental Illnesses—including schizophrenia and mood disorders—are not discussed here. The same applies for other specific neurobehavioral disorders in which causative genetic abnormalities have been found (such as Down, Klinefelter, Smith-Magenis Syndrome, Lesch-Nyhan, Rubinstein Taybi and CoffinLowry Syndromes). Except for ‘Genetics and Mental Retardation Syndromes: A New Look at Behavior and Interventions’, I don’t know of any similar book out in the market, so I would assume that its relevance is very high at this time.
Gustavo A. Charria-Ortiz Neurogenetics Division at New York School of Medicine, New York, NY, USA