Neurogenetics / Edition 1

by Stefan-M. Pulst

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.

Product Details

ISBN-13:	9780195129755
Publisher:	Oxford University Press
Publication date:	11/04/1999
Series:	Contemporary Neurology Series , #57
Pages:	488
Product dimensions:	10.20(w) x 7.24(h) x 0.97(d)

About the Author

Pulst, Stefan-M., MD, DrMed (UCLA)

Table of Contents

1. Introduction to Medical Genetics, Pulst2. Molecular Genetic Tools, Pulst3. Channelopathies, Tawil, Griggs, Rose4. Hereditary Neuropathy, Chance5. The Muscular Dystrophies, Sunada6. Facioscapulohumeral Muscular Dystrophy, Padberg, Adams7. Myotonic Dystrophy, Roses, Adams8. Primary Tumors of the Nervous System, Pulst, Reifenberger9. Phakomatoses, Pulst, Gutmann10. Prion Diseases, Windl, Kretzschmar11. Hereditary Spastic Paraplegia, Rouleau, Dube12. Hereditary Ataxias, Pulst, Perlman13. Huntington's Disease, Hayden14. Inherited Motor Neuron Disease, Brown15. Mitochondrial DNA and the Genetics of Mitochondrial Disease, Fadic, Johns16. Alzheimer's Disease: Genetic Factors, Bird, Levy-Lahad17. Inherited Epilepsy Syndrome, Buchhalter18. Genetics of Parkinson's Disease and Other Movement Disorders, Gasser, Oertel19. Multiple Sclerosis and other Demyelinating Disease, Sadovnick, Dyment20. Migraine, Baloh21. Genetics of Cerebrovascular Disease, Saver, Tamburi22. Genetic Counseling and DNA Testing, Bird, Bennett

Editorial Reviews

Reviewer: Daniel B. Hier, MD (University of Illinois at Chicago College of Medicine)
Description: This is a superb introduction to the rapidly expanding field of neurogenetics.
Purpose: The editor seeks to provide a readable and relatively complete overview of the new field of neurogenetics.
Audience: This book is aimed at both neurologists and geneticists. Both practicing physicians and researchers can read this book with great benefit.
Features: The first two chapters introduce the reader to the powerful new tools of genetics. These chapters, written by the editor, are models of clarity and conciseness and are worth the price of the book alone. The remaining chapters review specific diseases which have yielded to neurogenetic analysis including neuropathy, myopathy, CNS neoplasms, phakomatoses, ataxias, and a variety of neurodegenerative diseases including Huntington's disease, Alzheimer's disease, motor neuron disease, and Parkinson's disease.
Assessment: This book should be required reading for all neurology residents. Practicing neurologists will want to read it to update themselves on the burgeoning field of neurogenetics. The writing is lucid and the material important. A highly recommended book for practicing neurologists and geneticists as well as researchers in the field who want a comprehensive survey of the state of their field.

Doody's Review Service

"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

"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

From the Publisher

5 Stars from Doody