Article
An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia.
Neurology - 25 Jan 2000
Costanzi-Porrini S, Tessarolo D, Abbruzzese C, Liguori M, Ashizawa T, Giacanelli M
Abstract excerpt
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,...
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