Overview

Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects, as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

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9780195129755

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Neurogenetics is a concise volume addressing the genetic and molecular biological aspects of a number of neurological diseases. For the reader who has not already been engulfed by the tidal wave of genetics sweeping medicine, there are several excellent introductory chapters reviewing molecular techniques and tools used to determine genetic information about various human diseases...Neurogenetics represents a nice, concise summary of the current state of the genetic and molecular basis of multiple neurological diseases. It is easy to use and should be of great help to neurologists confronting these diseases on a daily basis. --Archives of Neurology<br> A commendable effort to focus on the application of a molecular medicine to the practice of clinical neurology...This book would be a useful resource to medical teachers, public health physicians, and associated health personnel looking after chronically ill patients with neurogenerative disorders. The book is suitable both as a personal physician copy and as a readily available reference on the shelves of a department or main health library. --American Journal of Medical Genetics<br>

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