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


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
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 Ouyang, Y.
Right arrow Articles by Nakano, I.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ouyang, Y.
Right arrow Articles by Nakano, I.
Related Collections
Right arrow Gait disorders/ataxia
Right arrow All Genetics
NEUROLOGY 2006;66:1103-1104
© 2006 American Academy of Neurology
Brief Communications

Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon

Y. Ouyang, MD, Y. Takiyama, MD, PhD, K. Sakoe, PhD, H. Shimazaki, MD, PhD, T. Ogawa, MD, S. Nagano, MD, PhD, Y. Yamamoto, MD, PhD and I. Nakano, MD, PhD

From the Department of Neurology (Y.O., Y.T., K.S., H.S. T.O., I.N.), Jichi Medical School, Tochigi, Japan; and the Department of Neurology (S.N., Y.Y.), Osaka University Graduate School of Medicine, Osaka, Japan.

Address correspondence and reprint requests to Dr. Yoshihisa Takiyama, Department of Neurology, Jichi Medical School, Tochigi 329-0498, Japan; e-mail: ytakiya{at}jichi.ac.jp

The authors describe a Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation (32627-32636delACACTGTTAC and 31760delT) in a new exon of the SACS gene. The new exons upstream of the gigantic one should be analyzed when a case is clinically compatible with ARSACS, even without any mutation in the gigantic exon.

Supported by a grant from the Research Committee for Ataxic Diseases (Y.T.) of the Ministry of Health, Labor and Welfare, Japan.

Disclosure: The authors report no conflicts of interest.

Received September 6, 2005. Accepted in final form December 19, 2005.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2006 by AAN Enterprises, Inc.