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Research Support, Non-U.S. Gov't
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A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III.

K Owada, K Ishikawa, S Toru, G Ishida, M Gomyoda, O Tao, Y Noguchi, K Kitamura, I Kondo, E Noguchi, T Arinami, H Mizusawa
Neurology 2005 August 24
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.

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