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Neurology 2001;57:1502-1504
© 2001 American Academy of Neurology
Brief Communications

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

C. Mariotti, MD, C. Gellera, PhD, M. Grisoli, MD, R. Mineri, PhD, A. Castucci, MS and S. Di Donato, MD

From the Divisions of Biochemistry and Genetics (Drs. Mariotti, Gellera, Mineri, and Di Donato, and A. Castucci), and Neuroradiology (Dr. Grisoli), National Neurological Institute–IRCCS "Carlo Besta," Milan, Italy.

Address correspondence and reprint requests to Dr. Caterina Mariotti, Division of Biochemistry and Genetics, National Neurological Institute–IRCCS "Carlo Besta," via Celoria 11, 20133 Milan, Italy; e-mail: mariotti{at}istituto-besta.it

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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