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 language | English (US) |
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Pages (from-to) | 491-493 |
Number of pages | 3 |
Journal | Neurology |
Volume | 54 |
Issue number | 2 |
DOIs | |
State | Published - Jan 25 2000 |
Keywords
- CAG
- Interrupted repeats
- Penetrance
- SCA-2
ASJC Scopus subject areas
- Clinical Neurology