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 Ogawa, T. Articles by Nishizawa, M. Search for Related Content PubMed PubMed Citation Articles by Ogawa, T. Articles by Nishizawa, M.

Identification of a SACS gene missense mutation in ARSACS

From the Departments of Neurology (Drs. Ogawa, Takiyama, Sakoe, Namekawa, Shimazaki, and Nakano) and Ophthalmology (Dr. Mori), Jichi Medical School, Tochigi, Japan; and Department of Neurology (Dr. Nishizawa), Brain Research Institute, Niigata University, Japan.

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

The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).

Received July 14, 2003. Accepted in final form September 11, 2003.

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]

				H. Shimazaki, Y. Takiyama, K. Sakoe, Y. Ando, and I. Nakano A phenotype without spasticity in sacsin-related ataxia Neurology, June 28, 2005; 64(12): 2129 - 2131. [Abstract] [Full Text] [PDF]

				C. M. Gomez ARSACS goes global Neurology, January 13, 2004; 62(1): 10 - 11. [Full Text] [PDF]