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NEUROLOGY 2004;62:648-651
© 2004 American Academy of Neurology
Brief Communications

Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus

K. Hara, MD, T. Fukushima, MD, T. Suzuki, MD, T. Shimohata, MD, M. Oyake, MD, H. Ishiguro, MD, K. Hirota, MD, A. Miyashita, PhD, R. Kuwano, MD, H. Kurisaki, MD, H. Yomono, MD, J. Goto, MD, I. Kanazawa, MD and S. Tsuji, MD

From the Department of Neurology (Drs. Hara, Fukushima, Suzuki, Shimohata, and Oyake) and the Genome Science Branch, Center for Bioresource-Based Research (Drs. Miyashita and Kuwano), Niigata University Brain Research Institute; the Department of Neurology (Drs. Ishiguro and Hirota), Akita Red Cross Hospital; the Department of Neurology (Drs. Kurisaki and Yomono), National Tokyo Hospital; the Department of Neurology (Drs. Goto and Tsuji), Division of Neuroscience, Graduate school of Medicine, University of Tokyo; and the National Center of Neurology and Psychiatry (Dr. Kanazawa), Tokyo, Japan.

Address correspondence and reprint requests to Dr. Shoji Tsuji, Department of Neurology, Division of Neuroscience, Graduate school of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan; e-mail: tsuji{at}m.u-tokyo.ac.jp

The authors identified two Japanese spinocerebellar ataxia (SCA) families characterized by postural and action tremor and a very slow progression rate. A genome-wide linkage analysis revealed linkage to chromosome 3p26.1-25.3 with the highest multipoint lod score at D3S3728 (Zmax = 3.31 at {theta} = 0.00). The candidate region was 14.7 cM flanked by D3S1620 and D3S3691, which was partly overlapping with the locus of SCA15 characterized by pure cerebellar ataxia. Despite the difference in phenotypes, there remains a possibility that the causative gene for these Japanese SCA is allelic to SCA15.

Received March 20, 2003. Accepted in final form September 24, 2003.

Presented in part at the 54th annual meeting of the American Academy of Neurology; April 13–20, 2002; Denver, CO.




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