Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Published online before print August 31, 2005, doi:10.1212/01.wnl.0000177490.05162.41)
This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Data Supplement
Right arrow All Versions of this Article:
01.wnl.0000177490.05162.41v1
65/7/1111    most recent
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Waters, M. F.
Right arrow Articles by Pulst, S. M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Waters, M. F.
Right arrow Articles by Pulst, S. M.
Related Collections
Right arrow Gait disorders/ataxia
Right arrow All Genetics
Right arrow Genetic linkage
NEUROLOGY 2005;65:1111-1113
© 2005 American Academy of Neurology
Brief Communications

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

M. F. Waters, MD, PhD, D. Fee, MD*, K. P. Figueroa, MS, D. Nolte, PhD, U. Müller, MD, PhD, J. Advincula, MD, H. Coon, MD, V. G. Evidente, MD and S. M. Pulst, MD

From the Division of Neurology and Rose Moss Laboratory for Parkinson’s and Neurodegenerative Diseases, Burns and Allen Research Institute, Cedars-Sinai Medical Center, Los Angeles, California (Drs. Waters and Fee, Ms. Figueroa, and Dr. Pulst); Institut fur Humangenetik Justus-Liebig-Universität, Germany (Drs. Müller and Nolte); Western Visayas State University Medical Center, Iloilo City, Philippines (Dr. Advincula); University of Utah Medical Center, Salt Lake City (Dr. Coon); Mayo Clinic, Scottsdale, Arizona (Dr. Evidente); and Departments of Medicine and Neurobiology, David Geffen School of Medicine at University of California, Los Angeles (Dr. Pulst).

Address correspondence and reprint requests to Dr. Stefan M. Pulst, Cedars-Sinai Medical Center, Division of Neurology, 8631 West Third Street, Suite 215E, Los Angeles, CA 90048; e-mail: stefan.pulst{at}cshs.org

The autosomal dominant spinocerebellar ataxias (ADCAs) represent a growing and heterogeneous disease phenotype. Clinical characterization of a three-generation Filipino family segregating a dominant ataxia revealed cerebellar signs and symptoms. After elimination of known spinocerebellar ataxia (SCA) loci, a genome-wide linkage scan revealed a disease locus in a 4-cM region of 19q13, with a 3.89 lod score. This region overlaps and reduces the SCA13 locus. However, this ADCA is clinically distinguishable from SCA13.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the October 11 issue to find the title link for this article.

This article was previously published in electronic format as an Expedited E-Pub on August 31, 2005, at www.neurology.org.

Supported in part by National Institutes of Health grant R01 NS33123 and a grant provided by the National Ataxia Foundation. M.F.W. is supported in part by the Raymond D. Adams Clinical Research Training Fellowship in Neurogenetics.

Disclosure: The authors report no conflicts of interest.

*Current address: Department of Neurology, University of Kentucky College of Medicine, Lexington.

Received April 24, 2005. Accepted in final form June 20, 2005.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2005 by AAN Enterprises, Inc.