Journal of Human Genetics

, Volume 52, Issue 10, pp 848–855 | Cite as

Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families

  • Rehana Basri
  • Ichiro Yabe
  • Hiroyuki Soma
  • Hidenao Sasaki
Original Article


Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders. To shed further light on the clinical and genetic spectrum of ADCA in Japan, we conducted a study to determine the frequency of a new variety of different subtypes of SCAs among ADCA patients. This current study was carried out from April 1999 to December 2006 on the basis of patients with symptoms and signs of ADCA disorders. PCR and/or direct sequencing were evaluated in a total of 113 families. Among them, 35 families were found to have the mutation associated with SCA6, 30 with SCA3, 11 with SCA1, five with SCA2, five with DRPLA, and one with SCA14. We also detected the heterozygous −16C → T single nucleotide substitution within the puratrophin-1 gene responsible for 16q22.1-linked ADCA in ten families. In this study, unusual varieties of SCA, including 27, 13, 5, 7, 8, 12, 17, and 16 were not found. Of the 113 patients, 14% had as yet unidentified ADCA mutations. The present study validates the prevalence of genetically distinct ADCA subtypes based on ethnic origin and geographical variation, and shows that 16q-linked ADCA has strong hereditary effects in patients with ADCAs in Japan.


Autosomal dominant cerebellar ataxia SCA6 SCA3 16q-linked ADCA 



We are very grateful to all the patients and their families for their willingness to participate in this study. This work was partly supported by a Grant-in-Aid for the “Research Committee for Ataxic Diseases” of the Research on Measures for Intractable Diseases from the Ministry of Health, Welfare and Labour, Japan, by a Grant-in-Aid for Scientific Research from the Ministry of Education, Science, Sports, and Culture, Japan and by a Grant from the Kanae Foundation.


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Copyright information

© The Japan Society of Human Genetics and Springer 2007

Authors and Affiliations

  • Rehana Basri
    • 1
  • Ichiro Yabe
    • 1
  • Hiroyuki Soma
    • 1
  • Hidenao Sasaki
    • 1
  1. 1.Department of Neurology, Graduate School of MedicineHokkaido UniversitySapporoJapan

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