Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient

Citation
C. Mariotti et al., Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient, NEUROLOGY, 57(8), 2001, pp. 1502-1504
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
57
Issue
8
Year of publication
2001
Pages
1502 - 1504
Database
ISI
SICI code
0028-3878(20011023)57:8<1502:PEOAIS>2.0.ZU;2-M
Abstract
SCA6 is caused by CAG expansion in the alpha 1A voltage-dependent calcium c hannel subunit gene. The authors studied an Italian family in which one pat ient 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-depend ent pathogenic effect of an intermediate CAG expansion in the SCA6 gene.