Neurogenetics by Stefan-M. PulstNeurogenetics by Stefan-M. Pulst


EditorStefan-M. Pulst

Hardcover | November 15, 1999

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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 appropriatetests 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 strokeare 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 torecently 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.
Stefan-M. Pulst is at UCLA School of Medicine, Los Angeles.
Title:NeurogeneticsFormat:HardcoverPublished:November 15, 1999Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:019512975X

ISBN - 13:9780195129755

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Table of Contents

1. Pulst: Introduction to Medical Genetics2. Pulst: Molecular Genetic Tools3. Tawil, Griggs, Rose: Channelopathies4. Chance: Hereditary Neuropathy5. Sunada: The Muscular Dystrophies6. Padberg, Adams: Facioscapulohumeral Muscular Dystrophy7. Roses, Adams: Myotonic Dystrophy8. Pulst, Reifenberger: Primary Tumors of the Nervous System9. Pulst, Gutmann: Phakomatoses10. Windl, Kretzschmar: Prion Diseases11. Rouleau, Dube: Hereditary Spastic Paraplegia12. Pulst, Perlman: Hereditary Ataxias13. Hayden: Huntington's Disease14. Brown: Inherited Motor Neuron Disease15. Fadic, Johns: Mitochondrial DNA and the Genetics of Mitochondrial Disease16. Bird, Levy-Lahad: Alzheimer's Disease: Genetic Factors17. Buchhalter: Inherited Epilepsy Syndrome18. Gasser, Oertel: Genetics of Parkinson's Disease and Other Movement Disorders19. Sadovnick, Dyment: Multiple Sclerosis and other Demyelinating Disease20. Baloh: Migraine21. Saver, Tamburi: Genetics of Cerebrovascular Disease22. Bird, Bennett: Genetic Counseling and DNA Testing

Editorial Reviews

"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 reviewingmolecular 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 toneurologists confronting these diseases on a daily basis."--Archives of Neurology