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A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III

From the Departments of Neurology and Neurological Science (Drs. Owada, Ishikawa, Toru, Tao, and Mizusawa), and Otolaryngology (Drs. Y. Noguchi and Kitamura), Graduate School, Tokyo Medical and Dental University, Tokyo, Departments of Neurology (Dr. Ishida) and Clinical Laboratory (Dr. Gomyoda), National Matsue Hospital, Shimane Prefecture, Department of Medical Genetics (Dr. Kondo), Ehime University School of Medicine, Ehime Prefecture, and Department of Medical Genetics (Drs. E. Noguchi and Arinami), Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan.

Address correspondence and reprint requests to Dr. H. Mizusawa, Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku 113-8519, Tokyo, Japan.

Presented is the new kindred with autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 (16q-ADCA type III) associated with progressive hearing loss. By haplotype analysis, the critical interval was slightly narrowed to three megabase regions between GATA01 and D16S3095. Neuropathologic study of 16q-ADCA type III demonstrated characteristic shrinkage of Purkinje cell bodies surrounded by synaptophysin-immunoreactive amorphous material containing calbindin- and ubiquitin-positive granules.

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 August 23 issue to find the title link for this article.

Dr. Owada's current affiliation is Department of Internal Medicine, Aoyama Hospital, 5-53-3 Jingu-mae, Shibuya-ku 150-0001, Tokyo, Japan.

Supported by Grant-in-Aids for Scientific research on Priority Areas, Advanced Brain Science Project, from the Ministry of Education, Culture, Sports, Science, and Technology, Japan (K.I. and H.M.), as well as Grants for Research on Intractable Disorders, Ministry of Health, Labor and Welfare, Japan (H.M.).

Disclosure: The authors report no conflicts of interest.

Received June 26, 2004. Accepted in final form April 18, 2005.

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