Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

@article{Silveira1998AnalysisOS,
  title={Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.},
  author={Isabel Silveira and Paula Coutinho and Patr{\'i}cia Maciel and Claudia Gaspar and Sean Hayes and Aureliano Dias and Jo{\~a}o Batista de Freitas Guimar{\~a}es and Leal Loureiro and J Sequeiros and Guy Rouleau},
  journal={American journal of medical genetics},
  year={1998},
  volume={81 2},
  pages={134-8}
}
The spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. To date, eight different loci causing SCA have been identified: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, SCA6, SCA7, and dentatorubropallidoluysian atrophy (DRPLA). Expansion of a CAG repeat in the disease genes has been found in five of these disorders. To estimate the relative frequencies of the SCA1, DRPLA, MJD, SCA2, and SCA6 mutations among Portuguese… CONTINUE READING

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