Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 11673601.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Calcium Channels
- Cerebellar Ataxia
- Trinucleotide Repeat Expansion