The dCTG Repeat Cosegregates with a Novel Form of Ataxia

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We used PCR analysis to screen the kindred from which the expansion had been originally cloned, and found that both of the affected individuals and two at-risk family members carried the expansion on one of their two alle-les (Koob et al. 1999). We subsequently screened our ataxia family collection (Moseley et al. 1998) and identified probands from 11 additional ataxia kindreds with expanded alleles. From one of these individuals we were able to identify and collect a seven-generation kindred with 92 members (Fig. 1). Mutation analyses showed that all of the affected individuals in the family had an expanded allele and linkage analysis between ataxia and the expansion gave a maximum logarithm of the odds (LOD) score of 6.8 at & = 0.00.

inherited the CTG expansion but are not clinically affected by ataxia. The CTG repeat lengths of expanded alleles are indicated below the symbols. Haplotype analyses using five short tandem repeat markers confirm that both branches of the family inherited the expanded repeat from a common founder. Family members homozygous for the SCA8 expansion and their affected heterozygous sibling (individuals VI: 24-26) had similar clinical features, with comparable ages of onset and rates disease of progression. (Reproduced from Koob et al. 1999 with permission from © 1999 Nature Publishing Group (http://www.nature.com/ng/index.html))

inherited the CTG expansion but are not clinically affected by ataxia. The CTG repeat lengths of expanded alleles are indicated below the symbols. Haplotype analyses using five short tandem repeat markers confirm that both branches of the family inherited the expanded repeat from a common founder. Family members homozygous for the SCA8 expansion and their affected heterozygous sibling (individuals VI: 24-26) had similar clinical features, with comparable ages of onset and rates disease of progression. (Reproduced from Koob et al. 1999 with permission from © 1999 Nature Publishing Group (http://www.nature.com/ng/index.html))

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