An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia.

@article{CostanziPorrini2000AnI3,
  title={An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia.},
  author={S Costanzi-Porrini and Daniela Tessarolo and Claudia Abbruzzese and M ichele Liguori and Tetsuo Ashizawa and Manlio Giacanelli},
  journal={Neurology},
  year={2000},
  volume={54 2},
  pages={
          491-3
        }
}
In spinocerebellar ataxia type 2 (SCA-2), a difference of three CAG repeats distinguishes normal alleles (14 to 31 repeats) from pathogenic alleles (34 to 57 repeats). All sequenced pathogenic alleles have a pure CAG repeat structure, whereas interrupted repeats have been seen exclusively in normal alleles. The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG)24(CAA)(CAG)9, who showed a phenotype compatible with SCA-2. The interrupted allele coding… CONTINUE READING

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