Case Reports
doi: 10.1212/wnl.57.8.1502.
Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient
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- PMID: 11673601
- DOI: 10.1212/wnl.57.8.1502
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Case Reports
Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient
Neurology.
.
Abstract
SCA6 is caused by CAG expansion in the alpha 1A voltage-dependent calcium channel subunit gene. The authors studied an Italian family in which one patient carried a fully expanded SCA6 allele with 26-CAG repeats, whereas the other affected family member was homozygous for an intermediate-size allele of 19-CAG repeats. Three family members, heterozygous for the intermediate allele, were clinically unaffected. The findings demonstrate a dose-dependent pathogenic effect of an intermediate CAG expansion in the SCA6 gene.
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