16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.

  title={16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.},
  author={Yabo Ouyang and Kumi Sakoe and Haruo Shimazaki and Michito Namekawa and Takuya Ogawa and Yasuhiko Ando and Takako Kawakami and Juntaro Kaneko and Yusuke Hasegawa and Kazuo Yoshizawa and Takeshi Amino and Kinya Ishikawa and Hidehiro Mizusawa and Imaharu Nakano and Yoshihisa Takiyama},
  journal={Journal of the neurological sciences},
  volume={247 2},
The autosomal dominant cerebellar ataxias (ADCAs) comprise a genetically and clinically heterogenous group of neurodegenerative disorders. Very recently, a C-to-T single nucleotide substitution in the puratrophin-1 gene was found to be strongly associated with a form of ADCA linked to chromosome 16q22.1 (16q-linked ADCA; OMIM 600223). We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9… CONTINUE READING


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