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Neurology 2000;54:1971-1975
© 2000 American Academy of Neurology
Articles

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

U. Nagaoka, MD, PhD, M. Takashima, MD, K. Ishikawa, MD, PhD, K. Yoshizawa, MD, T. Yoshizawa, MD, PhD, M. Ishikawa, MD, T. Yamawaki, MD, PhD, S. Shoji, MD, PhD and H. Mizusawa, MD, PhD

From the Department of Neurology (Drs. Nagaoka, Takashima, K. Ishikawa, and Mizusawa), Graduate School of Medicine, Tokyo Medical and Dental University, Bunkyo-ku; Department of Neurology (Drs. K. Ishikawa, K. Yoshizawa, T. Yoshizawa, and Shoji), Institute of Clinical Medicine, The University of Tsukuba, Ibaraki; CREST (Drs. K. Ishikawa and Mizusawa), Japan Science and Technology Society; Department of Neurology (Dr. K. Yoshizawa), National Mito Hospital, Mito, Ibaraki; Department of Internal Medicine (Dr. M. Ishikawa), Kawasaki Hospital, Hitachi, Ibaraki; and Department of Neurology (Dr. Yamawaki), Mito Red Cross Hospital, Ibaraki, Japan.

Address correspondence and reprint requests to Dr. Hidehiro Mizusawa, Professor and Chairman, Department of Neurology, Tokyo Medical and Dental University, Yushima 1-chome 5-45, Bunkyo-ku 113-5819, Tokyo, Japan; e-mail: h-mizusawa.nuro{at}med.tmd.ac.jp

BACKGROUND: Several different genes or their loci have been identified for autosomal dominant cerebellar ataxia (ADCA). However, other types of ataxia remain unassigned.

OBJECTIVE: To identify a new locus for ADCA.

METHODS: Six Japanese families with ADCA with pure cerebellar syndrome (ADCA type III) were examined. These families had been molecularly excluded for spinocerebellar ataxia (SCA) types 1 through 3, 5 through 8, and 10. Clinical examination was undertaken, and a genome-wide linkage search was performed on 250 microsatellite DNA markers.

RESULTS: Strong evidence for linkage was found with markers on human chromosome 16q, and haplotype and multipoint analyses further refined the gene locus in a 10.9-cM interval between D16S3089 and D16S515. Linkage disequilibrium was further found with the marker D16S3107 within the interval. The locus was exactly the candidate interval of SCA4, a rare form of ADCA clinically characterized by ataxia with sensory neuropathy and pyramidal tract signs. This would suggest that SCA4 and our ADCA type III are likely to be allelic disorders with different clinical features.

CONCLUSION: The current study provides evidence that a gene on the SCA4 locus causes a pure cerebellar syndrome.

Key words: Spinocerebellar ataxia—SCA4—Autosomal dominant cerebellar ataxia.




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