PubMed 11673601

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1

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

Authors: C Mariotti, C Gellera, M Grisoli, R Mineri, A Castucci, S Di Donato

Journal, date & volume: Neurology, 2001 Oct 23 , 57, 1502-4

PubMed link:

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.