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Nat Genet. 1993 Aug;4(4):398-403.

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.

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  • 1Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

Abstract

Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10(-7)) between the age of onset and the repeat length, which accounts for approximately 50% of the variation in the age of onset. Significant associations were also found between repeat length and age of death and onset of other clinical features. Sib pair and parent-child analysis revealed that the CAG repeat demonstrates only mild instability. Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p < 0.001) which was not apparent for affected parent-child pairs.

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PMID:
8401589
[PubMed - indexed for MEDLINE]
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