HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Figures Only Full Text Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Shimazaki, H. Articles by Nakano, I. Search for Related Content PubMed PubMed Citation Articles by Shimazaki, H. Articles by Nakano, I. Related Collections Gait disorders/ataxia Spastic paraplegia All Genetics

A phenotype without spasticity in sacsin-related ataxia

From the Department of Neurology (Drs. Shimazaki, Takiyama, Sakoe, Ando, and Nakano), Jichi Medical School, Tochigi, Japan.

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

The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.

This work was supported by a Research Grant for Nervous and Mental Disorders (14B, YT) and a grant from the Research Committee for Ataxic Diseases (YT) of the Ministry of Health, Labor and Welfare, Japan, and Grants-in-Aid for Scientific Research (C)(2) (15590903 [YT] and 15590905 [HS]) from the Ministry of Education, Science, Sports and Culture, Japan.

Received November 16, 2004. Accepted in final form March 3, 2005.

This article has been cited by other articles:

				Y. Ouyang, Y. Takiyama, K. Sakoe, H. Shimazaki, T. Ogawa, S. Nagano, Y. Yamamoto, and I. Nakano Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon Neurology, April 11, 2006; 66(7): 1103 - 1104. [Abstract] [Full Text] [PDF]

				S Okawa, M Sugawara, S Watanabe, I Toyoshima, and T Imota A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay J. Neurol. Neurosurg. Psychiatry, February 1, 2006; 77(2): 280 - 282. [Full Text] [PDF]