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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Book Description
Editorial Reviews
From The New England Journal of Medicine
The title on the cover of this book appears forbidding because it implies that the book will be an exhaustive treatise on all the genetic causes of neurologic disease. On the contrary, the book gives a concise overview of a rapidly expanding, and at times intimidating, body of genetic information that pertains to current neurologic knowledge. It is primarily designed for neurologists who treat adults and who would like to have easily accessible and up-to-date information on a large group of neurologic diseases. The contributors are well recognized and give useful information about the genetic basis of various central and peripheral nervous system disorders.
The introductory chapters, which include an overview and information on genetic tools, are well written and concise. The basics of DNA technology, such as hybridization techniques, the detection of polymorphisms, restriction-fragment-length polymorphisms, genetic-linkage studies, lod scores, and other genetic tools, are well described. One very useful tool that is mentioned in the second chapter is a list of disease-related Web sites and molecular genetics data bases. This book does not attempt to provide a detailed overview of all neurodegenerative diseases but, rather, chooses common problems and describes recent genetic advances.
Most disorders discussed in the book, such as the "channelopathies," hereditary neuropathies, prion diseases, muscle disorders, hereditary ataxias, and Alzheimer's disease, are covered in a clear and comprehensive manner. The chapter on channelopathies goes into the molecular basis of the periodic paralyses, myotonia congenita, and episodic ataxias involving potassium and calcium channels. A useful part of this chapter is the reference to treatments for each disorder. The chapter on the hereditary neuropathies is an excellent example of a concise synthesis of clinical information and categorization of the disorders in molecular terms. The description of "meiotic unequal crossover" as a mechanism to explain the duplications and deletions that can be seen in patients with Charcot-Marie-Tooth disease type 1A provides an easily understood explanation of a complicated subject.
Another extremely useful chapter discusses the advances in understanding prion diseases. A brief clinical overview of the prion diseases that affect humans is followed by separate discussions of the individual mutations and clinical diseases associated with these genetic changes. The muscle disorders are covered in three chapters on muscular dystrophies, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. The chapter on muscular dystrophies discusses not only Duchenne's muscular dystrophy but all of the sarcoglycanopathies, congenital muscular dystrophies, and other diseases caused by mutations in the emerin gene and genes for collagen VI. Two particularly useful chapters discuss the hereditary ataxias and Alzheimer's disease. These chapters synthesize a great deal of genetic information. The discussion of the differential diagnosis and workup of the ataxic syndromes is highly relevant for a busy clinician, and the discussion of genetic factors that affect Alzheimer's disease provides a concise synopsis of a large part of the medical literature.
One shortcoming is the omission of common metabolic diseases that affect children and adults, such as the lysosomal storage diseases and peroxisomal disorders. Some of the lysosomal disorders, however, such as Krabbe's disease and metachromatic leukodystrophy, are discussed briefly in other chapters. Mitochondrial diseases are discussed but not in depth. Some diseases, such as the dystonias and other movement disorders, are mentioned in the chapter on Parkinson's disease but are not covered in as much detail as are other subjects, and some movement disorders, such as Tourette's syndrome, are not discussed.
Other common neurologic disorders, such as epilepsy, vascular disease, and migraine, which are often not included in neurogenetic textbooks, are discussed from a genetic perspective that is very useful to anyone practicing neurology. In an age in which the human genome has been mapped and the entire genetic code will soon be elucidated, this book is a valuable and important resource for neurologists involved in clinical medicine. I think most such neurologists will find that the pages of the book will quickly become dog-eared and worn from frequent use.
Edward M. Kaye, M.D.
Copyright © 2000 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.
Review
"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
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5.0 out of 5 stars
It is all in the genes,
By John Cook (New York) - See all my reviews
This review is from: Neurogenetics (Contemporary Neurology) (Hardcover)
As a neophyte to genetics and neurology, I was surprised to find that the authors had been highly successful in making this book readable for a person who had not taken molecular genetics in college. Most of the common and not so common neurologic diseases are discussed inlcuding Alzheimer Disease, Parkinson disease and Multiple Sclerosis. There is even a chapter on the genetics of migraine. I could recommend this book to advanced highschool students and college students interested in genetics or neuroscience.
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