A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III.
case_series · Level IV
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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.
Medical subject headings
- Cerebellar Ataxia
- Chromosome Disorders
- Chromosomes, Human, Pair 16
- Gait Ataxia
- Genes, Dominant
- Hearing Loss