SPINOCEREBELLAR ATAXIA Edited by Jose Gazulla

SPINOCEREBELLARATAXIA Edited by Jose Gazulla SPINOCEREBELLAR ATAXIA Edited by Jose Gazulla Spinocerebellar Ataxia Edited by Jose Gazulla Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2012 InTech All chapters are Open Access distributed under the Creative Commons Attribution 3.0 license, which allows users to download, copy and build upon published articles even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. After this work has been published by InTech, authors have the right to republish it, in whole or part, in any publication of which they are the author, and to make other personal use of the work. Any republication, referencing or personal use of the work must explicitly identify the original source. As for readers, this license allows users to download, copy and build upon published chapters even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. Notice Statements and opinions expressed in the chapters are these of the individual contributors and not necessarily those of the editors or publisher. No responsibility is accepted for the accuracy of information contained in the published chapters. The publisher assumes no responsibility for any damage or injury to persons or property arising out of the use of any materials, instructions, methods or ideas contained in the book. Publishing Process Manager Petra Nenadic Technical Editor Teodora Smiljanic Cover Designer InTech Design Team First published April, 2012 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechopen.com Spinocerebellar Ataxia, Edited by Jose Gazulla p. cm. ISBN 978-953-51-0542-8 Contents Preface VII Chapter 1 Chapter 2 Chapter 3 Model Systems for Spinocerebellar Ataxias: Lessons Learned About the Pathogenesis 1 Thorsten Schmidt, Jana Schmidt and Jeannette Hübener Non-Mendelian Genetic Aspects in Spinocerebellar Ataxias (SCAS): The Case of Machado-Joseph Disease (MJD) 27 Manuela Lima, Jácome Bruges-Armas and Conceição Bettencourt Spinocerebellar Ataxia with Axonal Neuropathy (SCAN1): A Disorder of Nuclear and Mitochondrial DNA Repair 41 Hok Khim Fam, Miraj K. Chowdhury and Cornelius F. Boerkoel Chapter 4 Chapter 5 Chapter 6 Chapter 7 Chapter 8 Eye Movement Abnormalities in Spinocerebellar Ataxias 59 Roberto Rodríguez-Labrada and Luis Velázquez-Pérez Spinocerebellar Ataxia Type 2 77 Luis Velázquez-Pérez, Roberto Rodríguez-Labrada, Hans-Joachim Freund and Georg Auburger Machado-Joseph Disease / Spinocerebellar Ataxia Type 3 103 Clévio Nóbrega and Luís Pereira de Almeida Spinocerebellar Ataxia Type 12 (SCA 12): Clinical Features and Pathogenetic Mechanisms 139 Ronald A. Merrill, Andrew M. Slupe and Stefan Strack Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects 155 Haruo Shimazaki and Yoshihisa Takiyama Chapter 9 Neurochemistry and Neuropharmacology of the Cerebellar Ataxias 173 José Gazulla, Cristina Andrea Hermoso-Contreras and María Tintoré ... - tailieumienphi.vn