Handbook of ataxia disorders

書誌事項

Handbook of ataxia disorders

edited by Thomas Klockgether

(Neurological disease and therapy, v. 50)

Marcel Dekker, c2000

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注記

Includes bibliographical references and index

内容説明・目次

内容説明

This timely reference presents, for the first time, new findings in molecular genetics that are applicable to the epidemiology, pathogenesis, neuropathology, clinical features, and management of ataxia-bridging the gap between scientific and clinical practice. Organized by the distinctive ataxia disorders, their pathogenesis, and management-facilitating quick and efficient diagnoses! Providing complementary sections on the anatomy of the spinocerebellar system, its normal function, and a history of ataxia research and management, the Handbook of Ataxia Disorders clarifies the impact of identifying the molecular causes of ataxia offers in-depth analysis of dominant and recessive and nonhereditary ataxia disorders explores the vital connection between the genotypes and phenotypes of various degenerative ataxia disorders and more! Written by more than 60 international experts and supplemented with over 2600 literature references, photographs, micrographs, drawings, and tables, the Handbook of Ataxia Disorders is an essential and useful reference for clinical neurologists and neuropathologists, neuropediatricians, geneticists, physiatrists, and medical school students in these disciplines.

目次

Introduction Functional Architecture of the Cerebellar System Fahad Sultan, Martin Moeck, and Peter Thier Normal Functions of the Cerebellum Helge Topka History of Ataxia Research Jose Berciano, Julio Pascual, and Jose M. Polo Clinical Approach to Ataxic Patients Thomas Klockgether Developmental Disorders Cerebellar Malformations Vincent T. Ramaekers Autosomal Recessive Ataxias Friedreich's Ataxia Michel Koenig and Alexandra Durr Ataxia-Telangiectasia Nada Jabado, Patrick Concannon, and Richard A. Gatti Early-Onset Cerebellar Ataxia with Retained Tendon Reflexes Alessandro Filla and Giuseppe De Michele Abetalipoproteinemia Alfried Kohlschutter Ataxia with Isolated Vitamin E Deficiency Michel Koenig Heredopathia Atactica Polyneuritiformis: Refsum's Disease Frederick B. Gibberd and Anthony S. Wierzbicki Cerebrotendinous Xanthomatosis Vardiella Meiner and Eran Leitersdorf Ataxias Associated with Rare Metabolic Disorders Eugen Boltshauser Infantile-Onset Spinocerebellar Ataxia Tuula Loennqvist, Anders Paetau, Helena Pihko, and Kaisu Nikali Autosomal Recessive Spastic Ataxia (Charlevoix-Saguenay) Jean-Pierre Bouchard, Andrea Richter, Serge B. Melancon, Jean Mathieu, and Jean Michaud Mitochondrial Disorders Ataxia in Mitochondrial Disorders Heinz Reichmann Autosomal Dominant Ataxias Spinocerebellar Ataxia Type 1 Harry T. Orr and Thomas Klockgether Spinocerebellar Ataxia Type 2 Katrin Burk and Johannes Dichgans Spinocerebellar Ataxia Type 3 Ludger Schoels, Henry Paulson, and Olaf Riess Spinocerebellar Ataxia Type 4 Ying-Hui Fu, Michael Abele, and Louis J. Ptacek Spinocerebellar Ataxia Type 5 Lawrence J. Schut, John W. Day, H. Brent Clark, Michael D. Koob, and Laura P. W. Ranum Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6

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