Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia

@article{Amino2007RedefiningTD,
  title={Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia},
  author={Takeshi Amino and Kinya Ishikawa and Shuta Toru and Taro Ishiguro and Nozomu J. Sato and Taiji Tsunemi and Miho Murata and Kazuhiro Kobayashi and Johji Inazawa and Tatsushi Toda and Hidehiro Mizusawa},
  journal={Journal of Human Genetics},
  year={2007},
  volume={52},
  pages={643-649}
}
AbstractThe 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (−16C>T) in the puratrophin-1 gene was strongly associated with the disease. However, recently, an exceptional patient without the substitution was reported, indicating that a true pathogenic mutation might be… CONTINUE READING

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Other spinocerebellar ataxias.

Handbook of clinical neurology • 2012
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SCA 28 , a novel form of autosomal dominant cerebellar ataxia on chromosome 18 p 11 . 22 - q 11 . 2

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