Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan
- PMID: 17661799
- DOI: 10.1111/j.1600-0404.2007.00815.x
Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan
Abstract
Objective: Autosomal dominant cerebellar ataxia (ADCA) is a heterogeneous neurodegenerative disorder. A single nucleotide substitution in the puratrophin-1 gene is associated with 16q22.1-linked ADCA showing pure cerebellar ataxia. We screened patients with spinocerebellar degeneration (SCD) to investigate the frequency and clinical features of 16q22.1-linked ADCA.
Materials and methods: We examined 91 SCD patients from a 1998 community-based prevalence study of Tottori Prefecture in western Japan. We also analyzed samples from 176 patients with SCD collected from a 1996 to 2006 laboratory-based study.
Results: In the community-based study, the prevalence of spinocerebellar ataxia 6 (SCA6) and 16q22.1-linked ADCA was 2.4 and 1.12 per 100,000 individuals, respectively. In the laboratory-based study, the frequency of SCA6 and 16q22.1-linked ADCA was 28% and 17%, respectively. We found two cases of 16q22.1-linked ADCA among 26 SCD patients with no family history.
Conclusion: In this area in Japan, 16q22.1-linked ADCA was the second most common type of hereditary SCD.
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