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

S. Costanzi-Porrini, D. Tessarolo, C. Abbruzzese, M. Liguori, Tetsuo Ashizawa, M. Giacanelli

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

Abstract

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 for a 34 pure polyglutamine tract may cause the SCA phenotype.

Original languageEnglish (US)
Pages (from-to)491-493
Number of pages3
JournalNeurology
Volume54
Issue number2
DOIs
StatePublished - Jan 25 2000

Keywords

  • CAG
  • Interrupted repeats
  • Penetrance
  • SCA-2

ASJC Scopus subject areas

  • Clinical Neurology

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