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Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan

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Abstract:

Hayashi M, Adachi Y, Mori M, Nakano T, Nakashima K. Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan.

Acta Neurol Scand: 116: 123–127. © 2007 The Authors Journal compilation © 2007 Blackwell Munksgaard. 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.

Keywords: autosomal dominant cerebellar ataxia; leukoaraiosis; prevalence; puratrophin-1; spinocerebellar ataxia

Document Type: Research Article

DOI: https://doi.org/10.1111/j.1600-0404.2007.00815.x

Publication date: 2007-08-01

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