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

• Basri, Rehana

• Yabe, Ichiro

• Soma, Hiroyuki

• Sasaki, Hidenao

抄録

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.

収録刊行物

• Journal of Human Genetics

  Journal of Human Genetics 52 (10), 848-855, 2007-10

  Springer Japan

キーワード

• Autosomal dominant cerebellar ataxia
• SCA6
• SCA3
• 16q-linked ADCA

詳細情報

• CRID: 1050001338991634944
• NII論文ID: 10019776420
• NII書誌ID: AA11206160
• ISSN: 1435232X
• ISSN: 14345161
• HANDLE: 2115/28746
• NDL書誌ID: 8943459
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I8943459
• Web Site: https://search.jamas.or.jp/link/ui/2008082622
• 本文言語コード: en
• 資料種別: journal article
• データソース種別:
  • IRDB
  • NDL
  • CiNii Articles