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NEUROLOGY 2005;64:2129-2131
© 2005 American Academy of Neurology
Brief Communications

A phenotype without spasticity in sacsin-related ataxia

H. Shimazaki, MD, PhD, Y. Takiyama, MD, PhD, K. Sakoe, PhD, Y. Ando, MD and I. Nakano, MD, PhD

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.




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