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Vol. 100, No. 1-4, 2003
Issue release date: 2003
Section title: Paper
Cytogenet Genome Res 100:175–183 (2003)
(DOI:10.1159/000072852)

Molecular genetics of spinocerebellar ataxia type 8 (SCA8)

Mosemiller A.K. · Dalton J.C. · Day J.W. · Ranum L.P.W.
Departments of aGenetics, Cell Biology, and Development, bNeurology, and the cInstitute of Human Genetics, University of Minnesota, Minneapolis MN (USA)

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Article / Publication Details

First-Page Preview
Abstract of Paper

Received: 12/23/2002
Accepted: 3/6/2003
Published online: 10/15/2003

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

Abstract

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.    


  

Author Contacts

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
e-mail: ranum001@umn.edu

  

Article Information

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

  

Publication Details

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

First-Page Preview
Abstract of Paper

Received: 12/23/2002
Accepted: 3/6/2003
Published online: 10/15/2003

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


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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.
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