A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III |
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| Authors: | Owada K Ishikawa K Toru S Ishida G Gomyoda M Tao O Noguchi Y Kitamura K Kondo I Noguchi E Arinami T Mizusawa H |
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| Affiliation: | Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Tokyo, Japan. |
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| Abstract: | 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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