Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.

@article{Leggo1997AnalysisOS,
  title={Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.},
  author={Jayne Leggo and Ann E Dalton and Patrick John Morrison and A A Dodge and Margaret Connarty and Maritha J. Kotze and David C Rubinsztein},
  journal={Journal of medical genetics},
  year={1997},
  volume={34 12},
  pages={982-5}
}
Accurate clinical diagnosis of the spinocerebellar ataxias (SCAs) can be difficult because of overlap in phenotype with other disorders and variation in clinical manifestations. Six SCA loci have been mapped and four disease causing genes identified, in addition to the causative gene for Friedreich's ataxia (FA). All of the identified mutations are expansions of trinucleotide repeat tracts. The SCA2 and SCA6 genes were published recently. The extent of the normal CAG size ranges at these loci… CONTINUE READING
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