Human Molecular Genetics, Vol 6, 1283-1287, Copyright © 1997 by Oxford University Press
Z Matsuyama, H Kawakami, H Maruyama, Y Izumi, O Komure, F Udaka, M Kameyama, T Nishio, Y Kuroda, M Nishimura and S Nakamura
Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar
degeneration caused by the expansion of the polymorphic CAG repeat in the
human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4
gene). We have analyzed 60 SCA6 individuals from 39 independent SCA6
Japanese families and found that the CAG repeat length is inversely
correlated with the age of onset (n = 58, r = - 0.51, P < 0.0001). SCA6
chromosomes contained 21-30 repeat units, whereas normal chromosomes
displayed 6-17 repeats. There was no overlap between the normal and
affected CAG repeat number. The anticipation of the disease was observed
clinically in all eight parent-child pairs that we examined; the mean age
of onset was significantly lower (P = 0.0042) in children than in parents.
However, a parent-child analysis showed the increase in the expansion of
CAG repeats only in one pair and no diminution in any affected cases. This
result suggests that factors other than CAG repeats may produce the
clinical anticipation. A homozygotic case could not demonstrate an
unequivocal gene dosage effect on the age of onset.
ARTICLES
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)
Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
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