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

Caterina Mariotti, C. Gellera, M. Grisoli, R. Mineri, A. Castucci, S. Di Donato

Research output: Contribution to journalArticlepeer-review

Abstract

SCA6 is caused by CAG expansion in the α1A voltage-dependent calcium channel subunit gene. The authors studied an Italian family in which one patient carried a fully expanded SCA6 allele with 26CAG 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.

Original languageEnglish
Pages (from-to)1502-1504
Number of pages3
JournalNeurology
Volume57
Issue number8
Publication statusPublished - Oct 23 2001

ASJC Scopus subject areas

  • Neuroscience(all)

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