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 Michele 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

From This Paper

Figures, tables, results, connections, and topics extracted from this paper.
12 Extracted Citations
0 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.
Showing 1-10 of 12 extracted citations

Similar Papers

Loading similar papers…