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Doody's Review ServiceReviewer: Michael Joel Schrift, DO, MA (University of Illinois at Chicago College of Medicine)
Description: This fourth edition is representative of the tremendous developments in neurogenetics. With the sequencing of the human genome and the possibility of understanding the intervening mechanisms between DNA and phenotype, our ability to understand the fundamental components of disease pathogenesis has the potential to become realized. With this insight, medicine and the treatment of disease will become individualized. This book reviews the progress made thus far in this noble journey. Written and edited by internationally recognized authorities in the field, it is an outstanding contribution to the neurologic and psychiatric literature.
Purpose: The editors "hope that this body of information described here will serve to stimulate the next generation of neurologists, psychiatrists, and neuroscientists to enter this field and to move forward aggressively toward a clearer understanding of the molecular and genetic basis of neurologic and psychiatric disease well into the 21st century."
Audience: The intended audience includes "clinicians caring for patients with hereditary neurologic and psychiatric disorders and investigators concerned with the scientific issues that these disorders pose."
Features: The first section reviews such topics as repeat expansion disorders, Mendelian and non-Mendelian traits, genomics, gene therapy, genotype-phenotype correlations and includes an important chapter on emerging ethical issues in the field. Section two, the core of the book, covers specific neurologic diseases in detail, including trinucleotide repeat disorders, prion diseases, Down syndrome, mitochondrial disorders, peroxisomal disorders, lysosomal disorders, degenerative disorders, neuro-oncology, epilepsy, demyelinating disorders, neuropathies and neuronopathies, congenital myasthenia, myopathies, neurodermatologic disorders, metabolic disorders, disorders of purine metabolism, the porphyrias, disorders of metal metabolism, and vitamin related disorders. Psychiatric disease is the focus of section three, with an interesting chapter on challenges in this area of study and other chapters focusing on the progress made in the various psychiatric disorders. The final section is the neurologic gene map, listing chromosome by chromosome the regions associated with particular diseases. Each chapter concludes with pertinent citations of the scientific literature and helpful index ends the book.
Assessment: This is an excellent updated edition of an essential book on the genetics of neurologic and psychiatric disorders. Every clinician and researcher in neurology and psychiatry ought to be aware of the important information contained in this outstanding book.