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.
Original language | English |
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Pages (from-to) | 398-403 |
Number of pages | 6 |
Journal | Nature Genetics |
Volume | 4 |
Issue number | 4 |
DOIs | |
Publication status | Published - 1993 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)