We previously reported that a transcribed but untranslated CTG expansion causes a novel form of ataxia, spinocerebellar ataxia type 8 (SCA8) (Koob et al., 1999). SCA8 was the first example of a dominant spinocerebellar ataxia that is not caused by the expansion of a CAG repeat translated into a polyglutamine tract. This slowly progressive form of ataxia is characterized by dramatic repeat instability and a high degree of reduced penetrance. The clinical and genetic features of the disease are discussed below.
Request reprints from Laura Ranum, MMC 206 420 Delaware St. SE
University of Minnesota, Minneapolis, MN 55455 (USA)
telephone: (612) 624-0901; fax: (612) 626-2600
Received 23 December 2002;
revision accepted 6 March 2003.
Number of Print Pages : 9
Number of Figures : 5, Number of Tables : 0, Number of References : 68
Cytogenetic and Genome Research
Formerly ‘Cytogenetics and Cell Genetics’
Vol. 100, No. 1-4, Year 2003 (Cover Date: 2003)
Journal Editor: H.P. Klinger, Bronx, N.Y.; M. Schmid, Würzburg
ISSN: 1424–8581 (print), 1424–859X (Online)
For additional information: http://www.karger.com/journals/cgr
Article / Publication Details
Published online: 10/15/2003
Issue release date: 2003
Number of Print Pages: 9
Number of Figures: 5
Number of Tables: 0
ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)
For additional information: http://www.karger.com/CGR
Copyright / Drug Dosage
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.