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NEUROLOGY 2006;67:1300-1302
© 2006 American Academy of Neurology
Brief Communications

Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese

Y. Onodera, PhD, M. Aoki, MD, PhD, H. Mizuno, MD, H. Warita, MD, PhD, Y. Shiga, MD, PhD and Y. Itoyama, MD, PhD

From the Department of Neurology, Tohoku University School of Medicine, Seiryo-machi, Sendai, Japan.

Address correspondence and reprint requests to Dr. Masashi Aoki, Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan; e-mail: aokim{at}mail.tains.tohoku.ac.jp

Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is strongly associated with a substitution in the puratrophin-1 gene. This locus overlaps with spinocerebellar ataxia type 4 (SCA4) which shows ataxia with prominent sensory axonal neuropathy. We found that 16q-ADCA is a common ADCA subtype in the Tohoku District of Japan. The clinical feature of Japanese 16q-ADCA is characterized as late-onset pure cerebellar ataxia.

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 10 issue to find the title link for this article.

Supported by a Grant-in-Aid from the Ministry of Health, Labor and Welfare (M.A., Y.S., Y.I.) and a Grant-in-Aid for Scientific Research (C: 15590876 and C: 17590857) from the Japan Society for the Promotion of Science (M.A.).

Disclosure: The authors report no conflicts of interest.

Received January 19, 2006. Accepted in final form June 12, 2006.






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