Case Reports
doi: 10.1212/wnl.54.2.491.
An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia
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- PMID: 10668721
- DOI: 10.1212/wnl.54.2.491
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Case Reports
An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia
Neurology.
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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.
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